SNP Links for Protein (Select 395132473) - SNP

Select item 14890467751.

rs1489046775 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:8974634 (GRCh38)
1:9034693 (GRCh37)
Canonical SPDI:: NC_000001.11:8974633:G:A,NC_000001.11:8974633:G:T
Gene:: CA6 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.8974634G>A, NC_000001.11:g.8974634G>T, NC_000001.10:g.9034693G>A, NC_000001.10:g.9034693G>T, NG_033975.1:g.33801G>A, NG_033975.1:g.33801G>T, NM_001215.4:c.857G>A, NM_001215.4:c.857G>T, NM_001215.3:c.857G>A, NM_001215.3:c.857G>T, NM_001270501.2:c.677G>A, NM_001270501.2:c.677G>T, NM_001270501.1:c.677G>A, NM_001270501.1:c.677G>T, NM_001270502.2:c.473G>A, NM_001270502.2:c.473G>T, NM_001270502.1:c.473G>A, NM_001270502.1:c.473G>T, NP_001206.2:p.Gly286Asp, NP_001206.2:p.Gly286Val, NP_001257430.1:p.Gly226Asp, NP_001257430.1:p.Gly226Val, NP_001257431.1:p.Gly158Asp, NP_001257431.1:p.Gly158Val

Select item 14792978982.

rs1479297898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:8974648 (GRCh38)
1:9034707 (GRCh37)
Canonical SPDI:: NC_000001.11:8974647:T:C
Gene:: CA6 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.8974648T>C, NC_000001.10:g.9034707T>C, NG_033975.1:g.33815T>C, NM_001215.4:c.871T>C, NM_001215.3:c.871T>C, NM_001270501.2:c.691T>C, NM_001270501.1:c.691T>C, NM_001270502.2:c.487T>C, NM_001270502.1:c.487T>C, NP_001206.2:p.Phe291Leu, NP_001257430.1:p.Phe231Leu, NP_001257431.1:p.Phe163Leu

Select item 14704600453.

rs1470460045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:8967782 (GRCh38)
1:9027841 (GRCh37)
Canonical SPDI:: NC_000001.11:8967781:T:C
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8967782T>C, NC_000001.10:g.9027841T>C, NG_033975.1:g.26949T>C, NM_001215.4:c.695T>C, NM_001215.3:c.695T>C, NM_001270501.2:c.515T>C, NM_001270501.1:c.515T>C, NM_001270502.2:c.311T>C, NM_001270502.1:c.311T>C, NM_001270500.2:c.695T>C, NM_001270500.1:c.695T>C, XM_011542084.4:c.707T>C, XM_011542084.3:c.707T>C, XM_011542084.2:c.707T>C, XM_011542084.1:c.707T>C, XM_011542083.4:c.707T>C, XM_011542083.3:c.707T>C, XM_011542083.2:c.707T>C, XM_011542083.1:c.707T>C, NP_001206.2:p.Val232Ala, NP_001257430.1:p.Val172Ala, NP_001257431.1:p.Val104Ala, NP_001257429.1:p.Val232Ala, XP_011540386.1:p.Val236Ala, XP_011540385.1:p.Val236Ala

Select item 14428097174.

rs1442809717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8967796 (GRCh38)
1:9027855 (GRCh37)
Canonical SPDI:: NC_000001.11:8967795:G:A
Gene:: CA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8967796G>A, NC_000001.10:g.9027855G>A, NG_033975.1:g.26963G>A, NM_001215.4:c.709G>A, NM_001215.3:c.709G>A, NM_001270501.2:c.529G>A, NM_001270501.1:c.529G>A, NM_001270502.2:c.325G>A, NM_001270502.1:c.325G>A, NM_001270500.2:c.709G>A, NM_001270500.1:c.709G>A, XM_011542084.4:c.721G>A, XM_011542084.3:c.721G>A, XM_011542084.2:c.721G>A, XM_011542084.1:c.721G>A, XM_011542083.4:c.721G>A, XM_011542083.3:c.721G>A, XM_011542083.2:c.721G>A, XM_011542083.1:c.721G>A, NP_001206.2:p.Val237Ile, NP_001257430.1:p.Val177Ile, NP_001257431.1:p.Val109Ile, NP_001257429.1:p.Val237Ile, XP_011540386.1:p.Val241Ile, XP_011540385.1:p.Val241Ile

Select item 14264870015.

rs1426487001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:8974679 (GRCh38)
1:9034738 (GRCh37)
Canonical SPDI:: NC_000001.11:8974678:A:G
Gene:: CA6 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.8974679A>G, NC_000001.10:g.9034738A>G, NG_033975.1:g.33846A>G, NM_001215.4:c.902A>G, NM_001215.3:c.902A>G, NM_001270501.2:c.722A>G, NM_001270501.1:c.722A>G, NM_001270502.2:c.518A>G, NM_001270502.1:c.518A>G, NP_001206.2:p.Asp301Gly, NP_001257430.1:p.Asp241Gly, NP_001257431.1:p.Asp173Gly

Select item 14257593736.

rs1425759373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:8970911 (GRCh38)
1:9030970 (GRCh37)
Canonical SPDI:: NC_000001.11:8970910:C:G
Gene:: CA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.8970911C>G, NC_000001.10:g.9030970C>G, NG_033975.1:g.30078C>G, NM_001215.4:c.774C>G, NM_001215.3:c.774C>G, NM_001270501.2:c.594C>G, NM_001270501.1:c.594C>G, NM_001270502.2:c.390C>G, NM_001270502.1:c.390C>G, NM_001270500.2:c.774C>G, NM_001270500.1:c.774C>G, XM_011542084.4:c.786C>G, XM_011542084.3:c.786C>G, XM_011542084.2:c.786C>G, XM_011542084.1:c.786C>G, XM_011542083.4:c.786C>G, XM_011542083.3:c.786C>G, XM_011542083.2:c.786C>G, XM_011542083.1:c.786C>G

Select item 14204264597.

rs1420426459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8967809 (GRCh38)
1:9027868 (GRCh37)
Canonical SPDI:: NC_000001.11:8967808:G:A
Gene:: CA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8967809G>A, NC_000001.10:g.9027868G>A, NG_033975.1:g.26976G>A, NM_001215.4:c.722G>A, NM_001215.3:c.722G>A, NM_001270501.2:c.542G>A, NM_001270501.1:c.542G>A, NM_001270502.2:c.338G>A, NM_001270502.1:c.338G>A, NM_001270500.2:c.722G>A, NM_001270500.1:c.722G>A, XM_011542084.4:c.734G>A, XM_011542084.3:c.734G>A, XM_011542084.2:c.734G>A, XM_011542084.1:c.734G>A, XM_011542083.4:c.734G>A, XM_011542083.3:c.734G>A, XM_011542083.2:c.734G>A, XM_011542083.1:c.734G>A, NP_001206.2:p.Arg241Lys, NP_001257430.1:p.Arg181Lys, NP_001257431.1:p.Arg113Lys, NP_001257429.1:p.Arg241Lys, XP_011540386.1:p.Arg245Lys, XP_011540385.1:p.Arg245Lys

Select item 14168473248.

rs1416847324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8962630 (GRCh38)
1:9022689 (GRCh37)
Canonical SPDI:: NC_000001.11:8962629:C:T
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.8962630C>T, NC_000001.10:g.9022689C>T, NG_033975.1:g.21797C>T, NM_001215.4:c.545C>T, NM_001215.3:c.545C>T, NM_001270501.2:c.365C>T, NM_001270501.1:c.365C>T, NM_001270502.2:c.161C>T, NM_001270502.1:c.161C>T, NM_001270500.2:c.545C>T, NM_001270500.1:c.545C>T, XM_011542084.4:c.557C>T, XM_011542084.3:c.557C>T, XM_011542084.2:c.557C>T, XM_011542084.1:c.557C>T, XM_011542083.4:c.557C>T, XM_011542083.3:c.557C>T, XM_011542083.2:c.557C>T, XM_011542083.1:c.557C>T, NP_001206.2:p.Ser182Phe, NP_001257430.1:p.Ser122Phe, NP_001257431.1:p.Ser54Phe, NP_001257429.1:p.Ser182Phe, XP_011540386.1:p.Ser186Phe, XP_011540385.1:p.Ser186Phe

Select item 14109005259.

rs1410900525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:8970868 (GRCh38)
1:9030927 (GRCh37)
Canonical SPDI:: NC_000001.11:8970867:T:G
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.8970868T>G, NC_000001.10:g.9030927T>G, NG_033975.1:g.30035T>G, NM_001215.4:c.731T>G, NM_001215.3:c.731T>G, NM_001270501.2:c.551T>G, NM_001270501.1:c.551T>G, NM_001270502.2:c.347T>G, NM_001270502.1:c.347T>G, NM_001270500.2:c.731T>G, NM_001270500.1:c.731T>G, XM_011542084.4:c.743T>G, XM_011542084.3:c.743T>G, XM_011542084.2:c.743T>G, XM_011542084.1:c.743T>G, XM_011542083.4:c.743T>G, XM_011542083.3:c.743T>G, XM_011542083.2:c.743T>G, XM_011542083.1:c.743T>G, NP_001206.2:p.Val244Gly, NP_001257430.1:p.Val184Gly, NP_001257431.1:p.Val116Gly, NP_001257429.1:p.Val244Gly, XP_011540386.1:p.Val248Gly, XP_011540385.1:p.Val248Gly

Select item 140999909210.

rs1409999092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:8970937 (GRCh38)
1:9030996 (GRCh37)
Canonical SPDI:: NC_000001.11:8970936:A:G
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.8970937A>G, NC_000001.10:g.9030996A>G, NG_033975.1:g.30104A>G, NM_001215.4:c.800A>G, NM_001215.3:c.800A>G, NM_001270501.2:c.620A>G, NM_001270501.1:c.620A>G, NM_001270502.2:c.416A>G, NM_001270502.1:c.416A>G, NM_001270500.2:c.800A>G, NM_001270500.1:c.800A>G, XM_011542084.4:c.812A>G, XM_011542084.3:c.812A>G, XM_011542084.2:c.812A>G, XM_011542084.1:c.812A>G, XM_011542083.4:c.812A>G, XM_011542083.3:c.812A>G, XM_011542083.2:c.812A>G, XM_011542083.1:c.812A>G, NP_001206.2:p.Gln267Arg, NP_001257430.1:p.Gln207Arg, NP_001257431.1:p.Gln139Arg, NP_001257429.1:p.Gln267Arg, XP_011540386.1:p.Gln271Arg, XP_011540385.1:p.Gln271Arg

Select item 138490897811.

rs1384908978 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:8970922 (GRCh38)
1:9030981 (GRCh37)
Canonical SPDI:: NC_000001.11:8970921:A:C
Gene:: CA6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.8970922A>C, NC_000001.10:g.9030981A>C, NG_033975.1:g.30089A>C, NM_001215.4:c.785A>C, NM_001215.3:c.785A>C, NM_001270501.2:c.605A>C, NM_001270501.1:c.605A>C, NM_001270502.2:c.401A>C, NM_001270502.1:c.401A>C, NM_001270500.2:c.785A>C, NM_001270500.1:c.785A>C, XM_011542084.4:c.797A>C, XM_011542084.3:c.797A>C, XM_011542084.2:c.797A>C, XM_011542084.1:c.797A>C, XM_011542083.4:c.797A>C, XM_011542083.3:c.797A>C, XM_011542083.2:c.797A>C, XM_011542083.1:c.797A>C, NP_001206.2:p.Asp262Ala, NP_001257430.1:p.Asp202Ala, NP_001257431.1:p.Asp134Ala, NP_001257429.1:p.Asp262Ala, XP_011540386.1:p.Asp266Ala, XP_011540385.1:p.Asp266Ala

Select item 138177961012.

rs1381779610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:8970895 (GRCh38)
1:9030954 (GRCh37)
Canonical SPDI:: NC_000001.11:8970894:A:G
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.8970895A>G, NC_000001.10:g.9030954A>G, NG_033975.1:g.30062A>G, NM_001215.4:c.758A>G, NM_001215.3:c.758A>G, NM_001270501.2:c.578A>G, NM_001270501.1:c.578A>G, NM_001270502.2:c.374A>G, NM_001270502.1:c.374A>G, NM_001270500.2:c.758A>G, NM_001270500.1:c.758A>G, XM_011542084.4:c.770A>G, XM_011542084.3:c.770A>G, XM_011542084.2:c.770A>G, XM_011542084.1:c.770A>G, XM_011542083.4:c.770A>G, XM_011542083.3:c.770A>G, XM_011542083.2:c.770A>G, XM_011542083.1:c.770A>G, NP_001206.2:p.Asp253Gly, NP_001257430.1:p.Asp193Gly, NP_001257431.1:p.Asp125Gly, NP_001257429.1:p.Asp253Gly, XP_011540386.1:p.Asp257Gly, XP_011540385.1:p.Asp257Gly

Select item 137675188713.

rs1376751887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:8962638 (GRCh38)
1:9022697 (GRCh37)
Canonical SPDI:: NC_000001.11:8962637:G:A,NC_000001.11:8962637:G:T
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.8962638G>A, NC_000001.11:g.8962638G>T, NC_000001.10:g.9022697G>A, NC_000001.10:g.9022697G>T, NG_033975.1:g.21805G>A, NG_033975.1:g.21805G>T, NM_001215.4:c.553G>A, NM_001215.4:c.553G>T, NM_001215.3:c.553G>A, NM_001215.3:c.553G>T, NM_001270501.2:c.373G>A, NM_001270501.2:c.373G>T, NM_001270501.1:c.373G>A, NM_001270501.1:c.373G>T, NM_001270502.2:c.169G>A, NM_001270502.2:c.169G>T, NM_001270502.1:c.169G>A, NM_001270502.1:c.169G>T, NM_001270500.2:c.553G>A, NM_001270500.2:c.553G>T, NM_001270500.1:c.553G>A, NM_001270500.1:c.553G>T, XM_011542084.4:c.565G>A, XM_011542084.4:c.565G>T, XM_011542084.3:c.565G>A, XM_011542084.3:c.565G>T, XM_011542084.2:c.565G>A, XM_011542084.2:c.565G>T, XM_011542084.1:c.565G>A, XM_011542084.1:c.565G>T, XM_011542083.4:c.565G>A, XM_011542083.4:c.565G>T, XM_011542083.3:c.565G>A, XM_011542083.3:c.565G>T, XM_011542083.2:c.565G>A, XM_011542083.2:c.565G>T, XM_011542083.1:c.565G>A, XM_011542083.1:c.565G>T, NP_001206.2:p.Ala185Thr, NP_001206.2:p.Ala185Ser, NP_001257430.1:p.Ala125Thr, NP_001257430.1:p.Ala125Ser, NP_001257431.1:p.Ala57Thr, NP_001257431.1:p.Ala57Ser, NP_001257429.1:p.Ala185Thr, NP_001257429.1:p.Ala185Ser, XP_011540386.1:p.Ala189Thr, XP_011540386.1:p.Ala189Ser, XP_011540385.1:p.Ala189Thr, XP_011540385.1:p.Ala189Ser

Select item 137439395914.

rs1374393959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:8945955 (GRCh38)
1:9006014 (GRCh37)
Canonical SPDI:: NC_000001.11:8945954:G:C,NC_000001.11:8945954:G:T
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8945955G>C, NC_000001.11:g.8945955G>T, NC_000001.10:g.9006014G>C, NC_000001.10:g.9006014G>T, NG_033975.1:g.5122G>C, NG_033975.1:g.5122G>T, NM_001215.4:c.69G>C, NM_001215.4:c.69G>T, NM_001215.3:c.69G>C, NM_001215.3:c.69G>T, NM_001270501.2:c.69G>C, NM_001270501.2:c.69G>T, NM_001270501.1:c.69G>C, NM_001270501.1:c.69G>T, NM_001270502.2:c.14G>C, NM_001270502.2:c.14G>T, NM_001270502.1:c.14G>C, NM_001270502.1:c.14G>T, NM_001270500.2:c.69G>C, NM_001270500.2:c.69G>T, NM_001270500.1:c.69G>C, NM_001270500.1:c.69G>T, XM_011542084.4:c.81G>C, XM_011542084.4:c.81G>T, XM_011542084.3:c.81G>C, XM_011542084.3:c.81G>T, XM_011542084.2:c.81G>C, XM_011542084.2:c.81G>T, XM_011542084.1:c.81G>C, XM_011542084.1:c.81G>T, XM_011542083.4:c.81G>C, XM_011542083.4:c.81G>T, XM_011542083.3:c.81G>C, XM_011542083.3:c.81G>T, XM_011542083.2:c.81G>C, XM_011542083.2:c.81G>T, XM_011542083.1:c.81G>C, XM_011542083.1:c.81G>T, NP_001206.2:p.Trp23Cys, NP_001206.2:p.Trp23Cys, NP_001257430.1:p.Trp23Cys, NP_001257430.1:p.Trp23Cys, NP_001257431.1:p.Gly5Ala, NP_001257431.1:p.Gly5Val, NP_001257429.1:p.Trp23Cys, NP_001257429.1:p.Trp23Cys, XP_011540386.1:p.Trp27Cys, XP_011540386.1:p.Trp27Cys, XP_011540385.1:p.Trp27Cys, XP_011540385.1:p.Trp27Cys

Select item 137071967715.

rs1370719677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:8958991 (GRCh38)
1:9019050 (GRCh37)
Canonical SPDI:: NC_000001.11:8958990:G:A
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8958991G>A, NC_000001.10:g.9019050G>A, NG_033975.1:g.18158G>A, NM_001215.4:c.490G>A, NM_001215.3:c.490G>A, NM_001270501.2:c.310G>A, NM_001270501.1:c.310G>A, NM_001270502.2:c.106G>A, NM_001270502.1:c.106G>A, NM_001270500.2:c.490G>A, NM_001270500.1:c.490G>A, XM_011542084.4:c.502G>A, XM_011542084.3:c.502G>A, XM_011542084.2:c.502G>A, XM_011542084.1:c.502G>A, XM_011542083.4:c.502G>A, XM_011542083.3:c.502G>A, XM_011542083.2:c.502G>A, XM_011542083.1:c.502G>A, NP_001206.2:p.Ala164Thr, NP_001257430.1:p.Ala104Thr, NP_001257431.1:p.Ala36Thr, NP_001257429.1:p.Ala164Thr, XP_011540386.1:p.Ala168Thr, XP_011540385.1:p.Ala168Thr

Select item 136694888616.

rs1366948886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8958996 (GRCh38)
1:9019055 (GRCh37)
Canonical SPDI:: NC_000001.11:8958995:C:T
Gene:: CA6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.8958996C>T, NC_000001.10:g.9019055C>T, NG_033975.1:g.18163C>T, NM_001215.4:c.495C>T, NM_001215.3:c.495C>T, NM_001270501.2:c.315C>T, NM_001270501.1:c.315C>T, NM_001270502.2:c.111C>T, NM_001270502.1:c.111C>T, NM_001270500.2:c.495C>T, NM_001270500.1:c.495C>T, XM_011542084.4:c.507C>T, XM_011542084.3:c.507C>T, XM_011542084.2:c.507C>T, XM_011542084.1:c.507C>T, XM_011542083.4:c.507C>T, XM_011542083.3:c.507C>T, XM_011542083.2:c.507C>T, XM_011542083.1:c.507C>T

Select item 136519328117.

rs1365193281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:8974703 (GRCh38)
1:9034762 (GRCh37)
Canonical SPDI:: NC_000001.11:8974702:G:C
Gene:: CA6 (Varview)
Functional Consequence:: terminator_codon_variant,downstream_transcript_variant,stop_lost,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8974703G>C, NC_000001.10:g.9034762G>C, NG_033975.1:g.33870G>C, NM_001215.4:c.926G>C, NM_001215.3:c.926G>C, NM_001270501.2:c.746G>C, NM_001270501.1:c.746G>C, NM_001270502.2:c.542G>C, NM_001270502.1:c.542G>C, NP_001206.2:p.Ter309Ser, NP_001257430.1:p.Ter249Ser, NP_001257431.1:p.Ter181Ser

Select item 135742044218.

rs1357420442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:8967742 (GRCh38)
1:9027801 (GRCh37)
Canonical SPDI:: NC_000001.11:8967741:C:G
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8967742C>G, NC_000001.10:g.9027801C>G, NG_033975.1:g.26909C>G, NM_001215.4:c.655C>G, NM_001215.3:c.655C>G, NM_001270501.2:c.475C>G, NM_001270501.1:c.475C>G, NM_001270502.2:c.271C>G, NM_001270502.1:c.271C>G, NM_001270500.2:c.655C>G, NM_001270500.1:c.655C>G, XM_011542084.4:c.667C>G, XM_011542084.3:c.667C>G, XM_011542084.2:c.667C>G, XM_011542084.1:c.667C>G, XM_011542083.4:c.667C>G, XM_011542083.3:c.667C>G, XM_011542083.2:c.667C>G, XM_011542083.1:c.667C>G, NP_001206.2:p.Leu219Val, NP_001257430.1:p.Leu159Val, NP_001257431.1:p.Leu91Val, NP_001257429.1:p.Leu219Val, XP_011540386.1:p.Leu223Val, XP_011540385.1:p.Leu223Val

Select item 135668256319.

rs1356682563 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:8967814 (GRCh38)
1:9027873 (GRCh37)
Canonical SPDI:: NC_000001.11:8967813:C:A
Gene:: CA6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8967814C>A, NC_000001.10:g.9027873C>A, NG_033975.1:g.26981C>A, NM_001215.4:c.727C>A, NM_001215.3:c.727C>A, NM_001270501.2:c.547C>A, NM_001270501.1:c.547C>A, NM_001270502.2:c.343C>A, NM_001270502.1:c.343C>A, NM_001270500.2:c.727C>A, NM_001270500.1:c.727C>A, XM_011542084.4:c.739C>A, XM_011542084.3:c.739C>A, XM_011542084.2:c.739C>A, XM_011542084.1:c.739C>A, XM_011542083.4:c.739C>A, XM_011542083.3:c.739C>A, XM_011542083.2:c.739C>A, XM_011542083.1:c.739C>A, NP_001206.2:p.Gln243Lys, NP_001257430.1:p.Gln183Lys, NP_001257431.1:p.Gln115Lys, NP_001257429.1:p.Gln243Lys, XP_011540386.1:p.Gln247Lys, XP_011540385.1:p.Gln247Lys

Select item 135144851120.

rs1351448511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:8962616 (GRCh38)
1:9022675 (GRCh37)
Canonical SPDI:: NC_000001.11:8962615:C:G,NC_000001.11:8962615:C:T
Gene:: CA6 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8962616C>G, NC_000001.11:g.8962616C>T, NC_000001.10:g.9022675C>G, NC_000001.10:g.9022675C>T, NG_033975.1:g.21783C>G, NG_033975.1:g.21783C>T, NM_001215.4:c.531C>G, NM_001215.4:c.531C>T, NM_001215.3:c.531C>G, NM_001215.3:c.531C>T, NM_001270501.2:c.351C>G, NM_001270501.2:c.351C>T, NM_001270501.1:c.351C>G, NM_001270501.1:c.351C>T, NM_001270502.2:c.147C>G, NM_001270502.2:c.147C>T, NM_001270502.1:c.147C>G, NM_001270502.1:c.147C>T, NM_001270500.2:c.531C>G, NM_001270500.2:c.531C>T, NM_001270500.1:c.531C>G, NM_001270500.1:c.531C>T, XM_011542084.4:c.543C>G, XM_011542084.4:c.543C>T, XM_011542084.3:c.543C>G, XM_011542084.3:c.543C>T, XM_011542084.2:c.543C>G, XM_011542084.2:c.543C>T, XM_011542084.1:c.543C>G, XM_011542084.1:c.543C>T, XM_011542083.4:c.543C>G, XM_011542083.4:c.543C>T, XM_011542083.3:c.543C>G, XM_011542083.3:c.543C>T, XM_011542083.2:c.543C>G, XM_011542083.2:c.543C>T, XM_011542083.1:c.543C>G, XM_011542083.1:c.543C>T, NP_001206.2:p.Tyr177Ter, NP_001257430.1:p.Tyr117Ter, NP_001257431.1:p.Tyr49Ter, NP_001257429.1:p.Tyr177Ter, XP_011540386.1:p.Tyr181Ter, XP_011540385.1:p.Tyr181Ter

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Result Filters

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Items: 1 to 20 of 155

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