SNP Links for Protein (Select 767906429) - SNP

Links from Protein

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Select item 14853432141.

rs1485343214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:63523551 (GRCh38)
1:63989222 (GRCh37)
Canonical SPDI:: NC_000001.11:63523550:C:G
Gene:: ITGB3BP (Varview), EFCAB7 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_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.63523551C>G, NC_000001.10:g.63989222C>G, NG_030011.1:g.4723G>C, NM_032437.4:c.-85C>G, NM_032437.3:c.-85C>G, NM_032437.2:c.-85C>G, XM_006710976.4:c.20C>G, XM_006710976.3:c.20C>G, XM_006710976.2:c.20C>G, XM_006710976.1:c.20C>G, XR_946779.4:n.27C>G, XR_946779.3:n.71C>G, XR_946779.2:n.71C>G, XR_946779.1:n.71C>G, XM_011542301.3:c.20C>G, XM_011542301.2:c.20C>G, XM_011542301.1:c.20C>G, XM_006710977.2:c.-70C>G, XM_006710977.1:c.-70C>G, XM_047432129.1:c.20C>G, XP_006711039.1:p.Pro7Arg, XP_011540603.1:p.Pro7Arg, XP_047288085.1:p.Pro7Arg

Select item 14798862832.

rs1479886283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:63534194 (GRCh38)
1:63999865 (GRCh37)
Canonical SPDI:: NC_000001.11:63534193:T:C
Gene:: EFCAB7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63534194T>C, NC_000001.10:g.63999865T>C, NM_032437.4:c.782T>C, NM_032437.3:c.782T>C, NM_032437.2:c.782T>C, XM_006710976.4:c.821T>C, XM_006710976.3:c.821T>C, XM_006710976.2:c.821T>C, XM_006710976.1:c.821T>C, XR_946779.4:n.828T>C, XR_946779.3:n.872T>C, XR_946779.2:n.872T>C, XR_946779.1:n.872T>C, XM_011542301.3:c.821T>C, XM_011542301.2:c.821T>C, XM_011542301.1:c.821T>C, XM_006710977.2:c.782T>C, XM_006710977.1:c.782T>C, XM_047432129.1:c.821T>C, NP_115813.2:p.Leu261Ser, XP_006711039.1:p.Leu274Ser, XP_011540603.1:p.Leu274Ser, XP_006711040.1:p.Leu261Ser, XP_047288085.1:p.Leu274Ser

Select item 14798349273.

rs1479834927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63534104 (GRCh38)
1:63999775 (GRCh37)
Canonical SPDI:: NC_000001.11:63534103:G:A
Gene:: EFCAB7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63534104G>A, NC_000001.10:g.63999775G>A, NM_032437.4:c.692G>A, NM_032437.3:c.692G>A, NM_032437.2:c.692G>A, XM_006710976.4:c.731G>A, XM_006710976.3:c.731G>A, XM_006710976.2:c.731G>A, XM_006710976.1:c.731G>A, XR_946779.4:n.738G>A, XR_946779.3:n.782G>A, XR_946779.2:n.782G>A, XR_946779.1:n.782G>A, XM_011542301.3:c.731G>A, XM_011542301.2:c.731G>A, XM_011542301.1:c.731G>A, XM_006710977.2:c.692G>A, XM_006710977.1:c.692G>A, XM_047432129.1:c.731G>A, NP_115813.2:p.Arg231Lys, XP_006711039.1:p.Arg244Lys, XP_011540603.1:p.Arg244Lys, XP_006711040.1:p.Arg231Lys, XP_047288085.1:p.Arg244Lys

Select item 14798042814.

rs1479804281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63557242 (GRCh38)
1:64022913 (GRCh37)
Canonical SPDI:: NC_000001.11:63557241:G:A
Gene:: EFCAB7 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000001.11:g.63557242G>A, NC_000001.10:g.64022913G>A, NM_032437.4:c.1343G>A, NM_032437.3:c.1343G>A, NM_032437.2:c.1343G>A, XM_006710976.4:c.1382G>A, XM_006710976.3:c.1382G>A, XM_006710976.2:c.1382G>A, XM_006710976.1:c.1382G>A, XM_011542301.3:c.1382G>A, XM_011542301.2:c.1382G>A, XM_011542301.1:c.1382G>A, XM_006710977.2:c.1343G>A, XM_006710977.1:c.1343G>A, NP_115813.2:p.Cys448Tyr, XP_006711039.1:p.Cys461Tyr, XP_011540603.1:p.Cys461Tyr, XP_006711040.1:p.Cys448Tyr

Select item 14793877635.

rs1479387763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:63568334 (GRCh38)
1:64034005 (GRCh37)
Canonical SPDI:: NC_000001.11:63568333:T:C
Gene:: EFCAB7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63568334T>C, NC_000001.10:g.64034005T>C, NM_032437.4:c.1522T>C, NM_032437.3:c.1522T>C, NM_032437.2:c.1522T>C, XM_006710976.4:c.1561T>C, XM_006710976.3:c.1561T>C, XM_006710976.2:c.1561T>C, XM_006710976.1:c.1561T>C, XM_011542301.3:c.1561T>C, XM_011542301.2:c.1561T>C, XM_011542301.1:c.1561T>C, XM_006710977.2:c.1522T>C, XM_006710977.1:c.1522T>C, NP_115813.2:p.Tyr508His, XP_006711039.1:p.Tyr521His, XP_011540603.1:p.Tyr521His, XP_006711040.1:p.Tyr508His

Select item 14790114506.

rs1479011450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:63557166 (GRCh38)
1:64022837 (GRCh37)
Canonical SPDI:: NC_000001.11:63557165:C:G
Gene:: EFCAB7 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63557166C>G, NC_000001.10:g.64022837C>G, NM_032437.4:c.1267C>G, NM_032437.3:c.1267C>G, NM_032437.2:c.1267C>G, XM_006710976.4:c.1306C>G, XM_006710976.3:c.1306C>G, XM_006710976.2:c.1306C>G, XM_006710976.1:c.1306C>G, XR_946779.4:n.1293C>G, XR_946779.3:n.1337C>G, XR_946779.2:n.1337C>G, XR_946779.1:n.1337C>G, XM_011542301.3:c.1306C>G, XM_011542301.2:c.1306C>G, XM_011542301.1:c.1306C>G, XM_006710977.2:c.1267C>G, XM_006710977.1:c.1267C>G, NP_115813.2:p.Leu423Val, XP_006711039.1:p.Leu436Val, XP_011540603.1:p.Leu436Val, XP_006711040.1:p.Leu423Val

Select item 14787958137.

rs1478795813 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTT [Show Flanks]
Chromosome:: 1:63561786 (GRCh38)
1:64027458 (GRCh37)
Canonical SPDI:: NC_000001.11:63561786::TTTTTT
Gene:: EFCAB7 (Varview)
Functional Consequence:: stop_gained,inframe_indel,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.63561786_63561787insTTTTTT, NC_000001.10:g.64027457_64027458insTTTTTT, NM_032437.4:c.1426_1427insTTTTTT, NM_032437.3:c.1426_1427insTTTTTT, NM_032437.2:c.1426_1427insTTTTTT, XM_006710976.4:c.1465_1466insTTTTTT, XM_006710976.3:c.1465_1466insTTTTTT, XM_006710976.2:c.1465_1466insTTTTTT, XM_006710976.1:c.1465_1466insTTTTTT, XM_011542301.3:c.1465_1466insTTTTTT, XM_011542301.2:c.1465_1466insTTTTTT, XM_011542301.1:c.1465_1466insTTTTTT, XM_006710977.2:c.1426_1427insTTTTTT, XM_006710977.1:c.1426_1427insTTTTTT, NP_115813.2:p.Glu476delinsValPheTer, XP_006711039.1:p.Glu489delinsValPheTer, XP_011540603.1:p.Glu489delinsValPheTer, XP_006711040.1:p.Glu476delinsValPheTer

Select item 14707235538.

rs1470723553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:63532694 (GRCh38)
1:63998365 (GRCh37)
Canonical SPDI:: NC_000001.11:63532693:G:A,NC_000001.11:63532693:G:T
Gene:: EFCAB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63532694G>A, NC_000001.11:g.63532694G>T, NC_000001.10:g.63998365G>A, NC_000001.10:g.63998365G>T, NM_032437.4:c.424G>A, NM_032437.4:c.424G>T, NM_032437.3:c.424G>A, NM_032437.3:c.424G>T, NM_032437.2:c.424G>A, NM_032437.2:c.424G>T, XM_006710976.4:c.463G>A, XM_006710976.4:c.463G>T, XM_006710976.3:c.463G>A, XM_006710976.3:c.463G>T, XM_006710976.2:c.463G>A, XM_006710976.2:c.463G>T, XM_006710976.1:c.463G>A, XM_006710976.1:c.463G>T, XR_946779.4:n.470G>A, XR_946779.4:n.470G>T, XR_946779.3:n.514G>A, XR_946779.3:n.514G>T, XR_946779.2:n.514G>A, XR_946779.2:n.514G>T, XR_946779.1:n.514G>A, XR_946779.1:n.514G>T, XM_011542301.3:c.463G>A, XM_011542301.3:c.463G>T, XM_011542301.2:c.463G>A, XM_011542301.2:c.463G>T, XM_011542301.1:c.463G>A, XM_011542301.1:c.463G>T, XM_006710977.2:c.424G>A, XM_006710977.2:c.424G>T, XM_006710977.1:c.424G>A, XM_006710977.1:c.424G>T, XM_047432129.1:c.463G>A, XM_047432129.1:c.463G>T, NP_115813.2:p.Glu142Lys, NP_115813.2:p.Glu142Ter, XP_006711039.1:p.Glu155Lys, XP_006711039.1:p.Glu155Ter, XP_011540603.1:p.Glu155Lys, XP_011540603.1:p.Glu155Ter, XP_006711040.1:p.Glu142Lys, XP_006711040.1:p.Glu142Ter, XP_047288085.1:p.Glu155Lys, XP_047288085.1:p.Glu155Ter

Select item 14698065609.

rs1469806560 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:63523555 (GRCh38)
1:63989226 (GRCh37)
Canonical SPDI:: NC_000001.11:63523554:A:C
Gene:: ITGB3BP (Varview), EFCAB7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000036/5 (GnomAD)
C=0.000079/21 (TOPMED)
HGVS:: NC_000001.11:g.63523555A>C, NC_000001.10:g.63989226A>C, NG_030011.1:g.4719T>G, NM_032437.4:c.-81A>C, NM_032437.3:c.-81A>C, NM_032437.2:c.-81A>C, XM_006710976.4:c.24A>C, XM_006710976.3:c.24A>C, XM_006710976.2:c.24A>C, XM_006710976.1:c.24A>C, XR_946779.4:n.31A>C, XR_946779.3:n.75A>C, XR_946779.2:n.75A>C, XR_946779.1:n.75A>C, XM_011542301.3:c.24A>C, XM_011542301.2:c.24A>C, XM_011542301.1:c.24A>C, XM_006710977.2:c.-66A>C, XM_006710977.1:c.-66A>C, XM_047432129.1:c.24A>C, XP_006711039.1:p.Arg8Ser, XP_011540603.1:p.Arg8Ser, XP_047288085.1:p.Arg8Ser

Select item 146629520810.

rs1466295208 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:63557227 (GRCh38)
1:64022898 (GRCh37)
Canonical SPDI:: NC_000001.11:63557226:A:G
Gene:: EFCAB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63557227A>G, NC_000001.10:g.64022898A>G, NM_032437.4:c.1328A>G, NM_032437.3:c.1328A>G, NM_032437.2:c.1328A>G, XM_006710976.4:c.1367A>G, XM_006710976.3:c.1367A>G, XM_006710976.2:c.1367A>G, XM_006710976.1:c.1367A>G, XM_011542301.3:c.1367A>G, XM_011542301.2:c.1367A>G, XM_011542301.1:c.1367A>G, XM_006710977.2:c.1328A>G, XM_006710977.1:c.1328A>G, NP_115813.2:p.Asp443Gly, XP_006711039.1:p.Asp456Gly, XP_011540603.1:p.Asp456Gly, XP_006711040.1:p.Asp443Gly

Select item 146579365111.

rs1465793651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:63525619 (GRCh38)
1:63991290 (GRCh37)
Canonical SPDI:: NC_000001.11:63525618:C:G
Gene:: ITGB3BP (Varview), EFCAB7 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63525619C>G, NC_000001.10:g.63991290C>G, NG_030011.1:g.2655G>C, NM_032437.4:c.47C>G, NM_032437.3:c.47C>G, NM_032437.2:c.47C>G, XM_006710976.4:c.86C>G, XM_006710976.3:c.86C>G, XM_006710976.2:c.86C>G, XM_006710976.1:c.86C>G, XR_946779.4:n.93C>G, XR_946779.3:n.137C>G, XR_946779.2:n.137C>G, XR_946779.1:n.137C>G, XM_011542301.3:c.86C>G, XM_011542301.2:c.86C>G, XM_011542301.1:c.86C>G, XM_006710977.2:c.47C>G, XM_006710977.1:c.47C>G, XM_047432129.1:c.86C>G, NP_115813.2:p.Ser16Ter, XP_006711039.1:p.Ser29Ter, XP_011540603.1:p.Ser29Ter, XP_006711040.1:p.Ser16Ter, XP_047288085.1:p.Ser29Ter

Select item 146480593512.

rs1464805935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:63533498 (GRCh38)
1:63999169 (GRCh37)
Canonical SPDI:: NC_000001.11:63533497:T:G
Gene:: EFCAB7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.63533498T>G, NC_000001.10:g.63999169T>G, NM_032437.4:c.531T>G, NM_032437.3:c.531T>G, NM_032437.2:c.531T>G, XM_006710976.4:c.570T>G, XM_006710976.3:c.570T>G, XM_006710976.2:c.570T>G, XM_006710976.1:c.570T>G, XR_946779.4:n.577T>G, XR_946779.3:n.621T>G, XR_946779.2:n.621T>G, XR_946779.1:n.621T>G, XM_011542301.3:c.570T>G, XM_011542301.2:c.570T>G, XM_011542301.1:c.570T>G, XM_006710977.2:c.531T>G, XM_006710977.1:c.531T>G, XM_047432129.1:c.570T>G

Select item 146437174113.

rs1464371741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:63561790 (GRCh38)
1:64027461 (GRCh37)
Canonical SPDI:: NC_000001.11:63561789:G:T
Gene:: EFCAB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63561790G>T, NC_000001.10:g.64027461G>T, NM_032437.4:c.1430G>T, NM_032437.3:c.1430G>T, NM_032437.2:c.1430G>T, XM_006710976.4:c.1469G>T, XM_006710976.3:c.1469G>T, XM_006710976.2:c.1469G>T, XM_006710976.1:c.1469G>T, XM_011542301.3:c.1469G>T, XM_011542301.2:c.1469G>T, XM_011542301.1:c.1469G>T, XM_006710977.2:c.1430G>T, XM_006710977.1:c.1430G>T, NP_115813.2:p.Gly477Val, XP_006711039.1:p.Gly490Val, XP_011540603.1:p.Gly490Val, XP_006711040.1:p.Gly477Val

Select item 146395688714.

rs1463956887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:63534128 (GRCh38)
1:63999799 (GRCh37)
Canonical SPDI:: NC_000001.11:63534127:G:A
Gene:: EFCAB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63534128G>A, NC_000001.10:g.63999799G>A, NM_032437.4:c.716G>A, NM_032437.3:c.716G>A, NM_032437.2:c.716G>A, XM_006710976.4:c.755G>A, XM_006710976.3:c.755G>A, XM_006710976.2:c.755G>A, XM_006710976.1:c.755G>A, XR_946779.4:n.762G>A, XR_946779.3:n.806G>A, XR_946779.2:n.806G>A, XR_946779.1:n.806G>A, XM_011542301.3:c.755G>A, XM_011542301.2:c.755G>A, XM_011542301.1:c.755G>A, XM_006710977.2:c.716G>A, XM_006710977.1:c.716G>A, XM_047432129.1:c.755G>A, NP_115813.2:p.Arg239Lys, XP_006711039.1:p.Arg252Lys, XP_011540603.1:p.Arg252Lys, XP_006711040.1:p.Arg239Lys, XP_047288085.1:p.Arg252Lys

Select item 146391650415.

rs1463916504 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:63555511 (GRCh38)
1:64021182 (GRCh37)
Canonical SPDI:: NC_000001.11:63555510:TTT:TT
Gene:: EFCAB7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63555513del, NC_000001.10:g.64021184del, NM_032437.4:c.1212del, NM_032437.3:c.1212del, NM_032437.2:c.1212del, XM_006710976.4:c.1251del, XM_006710976.3:c.1251del, XM_006710976.2:c.1251del, XM_006710976.1:c.1251del, XM_011542301.3:c.1251del, XM_011542301.2:c.1251del, XM_011542301.1:c.1251del, XM_006710977.2:c.1212del, XM_006710977.1:c.1212del, NP_115813.2:p.Phe404fs, XP_006711039.1:p.Phe417fs, XP_011540603.1:p.Phe417fs, XP_006711040.1:p.Phe404fs

Select item 146175689216.

rs1461756892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:63533637 (GRCh38)
1:63999308 (GRCh37)
Canonical SPDI:: NC_000001.11:63533636:T:C
Gene:: EFCAB7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000023/5 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63533637T>C, NC_000001.10:g.63999308T>C, NM_032437.4:c.670T>C, NM_032437.3:c.670T>C, NM_032437.2:c.670T>C, XM_006710976.4:c.709T>C, XM_006710976.3:c.709T>C, XM_006710976.2:c.709T>C, XM_006710976.1:c.709T>C, XR_946779.4:n.716T>C, XR_946779.3:n.760T>C, XR_946779.2:n.760T>C, XR_946779.1:n.760T>C, XM_011542301.3:c.709T>C, XM_011542301.2:c.709T>C, XM_011542301.1:c.709T>C, XM_006710977.2:c.670T>C, XM_006710977.1:c.670T>C, XM_047432129.1:c.709T>C, NP_115813.2:p.Phe224Leu, XP_006711039.1:p.Phe237Leu, XP_011540603.1:p.Phe237Leu, XP_006711040.1:p.Phe224Leu, XP_047288085.1:p.Phe237Leu

Select item 146089987217.

rs1460899872 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:63531879 (GRCh38)
1:63997550 (GRCh37)
Canonical SPDI:: NC_000001.11:63531878:C:T
Gene:: EFCAB7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_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.63531879C>T, NC_000001.10:g.63997550C>T, NM_032437.4:c.247C>T, NM_032437.3:c.247C>T, NM_032437.2:c.247C>T, XM_006710976.4:c.286C>T, XM_006710976.3:c.286C>T, XM_006710976.2:c.286C>T, XM_006710976.1:c.286C>T, XR_946779.4:n.293C>T, XR_946779.3:n.337C>T, XR_946779.2:n.337C>T, XR_946779.1:n.337C>T, XM_011542301.3:c.286C>T, XM_011542301.2:c.286C>T, XM_011542301.1:c.286C>T, XM_006710977.2:c.247C>T, XM_006710977.1:c.247C>T, XM_047432129.1:c.286C>T, NP_115813.2:p.Gln83Ter, XP_006711039.1:p.Gln96Ter, XP_011540603.1:p.Gln96Ter, XP_006711040.1:p.Gln83Ter, XP_047288085.1:p.Gln96Ter

Select item 145830665918.

rs1458306659 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:63561745 (GRCh38)
1:64027416 (GRCh37)
Canonical SPDI:: NC_000001.11:63561744:A:G
Gene:: EFCAB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.63561745A>G, NC_000001.10:g.64027416A>G, NM_032437.4:c.1385A>G, NM_032437.3:c.1385A>G, NM_032437.2:c.1385A>G, XM_006710976.4:c.1424A>G, XM_006710976.3:c.1424A>G, XM_006710976.2:c.1424A>G, XM_006710976.1:c.1424A>G, XM_011542301.3:c.1424A>G, XM_011542301.2:c.1424A>G, XM_011542301.1:c.1424A>G, XM_006710977.2:c.1385A>G, XM_006710977.1:c.1385A>G, NP_115813.2:p.Gln462Arg, XP_006711039.1:p.Gln475Arg, XP_011540603.1:p.Gln475Arg, XP_006711040.1:p.Gln462Arg

Select item 145828062419.

rs1458280624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:63551793 (GRCh38)
1:64017464 (GRCh37)
Canonical SPDI:: NC_000001.11:63551792:A:G
Gene:: EFCAB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.63551793A>G, NC_000001.10:g.64017464A>G, NM_032437.4:c.1015A>G, NM_032437.3:c.1015A>G, NM_032437.2:c.1015A>G, XM_006710976.4:c.1054A>G, XM_006710976.3:c.1054A>G, XM_006710976.2:c.1054A>G, XM_006710976.1:c.1054A>G, XR_946779.4:n.1061A>G, XR_946779.3:n.1105A>G, XR_946779.2:n.1105A>G, XR_946779.1:n.1105A>G, XM_011542301.3:c.1054A>G, XM_011542301.2:c.1054A>G, XM_011542301.1:c.1054A>G, XM_006710977.2:c.1015A>G, XM_006710977.1:c.1015A>G, NP_115813.2:p.Asn339Asp, XP_006711039.1:p.Asn352Asp, XP_011540603.1:p.Asn352Asp, XP_006711040.1:p.Asn339Asp

Select item 145694000620.

rs1456940006 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:63571031 (GRCh38)
1:64036702 (GRCh37)
Canonical SPDI:: NC_000001.11:63571030:A:C,NC_000001.11:63571030:A:T
Gene:: EFCAB7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.63571031A>C, NC_000001.11:g.63571031A>T, NC_000001.10:g.64036702A>C, NC_000001.10:g.64036702A>T, NM_032437.4:c.1718A>C, NM_032437.4:c.1718A>T, NM_032437.3:c.1718A>C, NM_032437.3:c.1718A>T, NM_032437.2:c.1718A>C, NM_032437.2:c.1718A>T, XM_006710976.4:c.1757A>C, XM_006710976.4:c.1757A>T, XM_006710976.3:c.1757A>C, XM_006710976.3:c.1757A>T, XM_006710976.2:c.1757A>C, XM_006710976.2:c.1757A>T, XM_006710976.1:c.1757A>C, XM_006710976.1:c.1757A>T, XM_011542301.3:c.1757A>C, XM_011542301.3:c.1757A>T, XM_011542301.2:c.1757A>C, XM_011542301.2:c.1757A>T, XM_011542301.1:c.1757A>C, XM_011542301.1:c.1757A>T, XM_006710977.2:c.1718A>C, XM_006710977.2:c.1718A>T, XM_006710977.1:c.1718A>C, XM_006710977.1:c.1718A>T, NP_115813.2:p.Lys573Thr, NP_115813.2:p.Lys573Ile, XP_006711039.1:p.Lys586Thr, XP_006711039.1:p.Lys586Ile, XP_011540603.1:p.Lys586Thr, XP_011540603.1:p.Lys586Ile, XP_006711040.1:p.Lys573Thr, XP_006711040.1:p.Lys573Ile

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