SNP Links for Protein (Select 393290870) - SNP

Links from Protein

Items: 1 to 20 of 141

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Select item 14870993661.

rs1487099366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100529654 (GRCh38)
8:101541882 (GRCh37)
Canonical SPDI:: NC_000008.11:100529653:G:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.100529654G>A, NC_000008.10:g.101541882G>A, NM_198401.4:c.180C>T, NM_198401.3:c.180C>T, NM_001270378.2:c.180C>T, NM_001270378.1:c.180C>T, NM_001270377.2:c.180C>T, NM_001270377.1:c.180C>T, NM_001270379.2:c.180C>T, NM_001270379.1:c.180C>T

Select item 14804675032.

rs1480467503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100529671 (GRCh38)
8:101541899 (GRCh37)
Canonical SPDI:: NC_000008.11:100529670:G:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.100529671G>A, NC_000008.10:g.101541899G>A, NM_198401.4:c.163C>T, NM_198401.3:c.163C>T, NM_001270378.2:c.163C>T, NM_001270378.1:c.163C>T, NM_001270377.2:c.163C>T, NM_001270377.1:c.163C>T, NM_001270379.2:c.163C>T, NM_001270379.1:c.163C>T, NP_940683.1:p.Arg55Ter, NP_001257307.1:p.Arg55Ter, NP_001257306.1:p.Arg55Ter, NP_001257308.1:p.Arg55Ter

Select item 14776212953.

rs1477621295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100522634 (GRCh38)
8:101534862 (GRCh37)
Canonical SPDI:: NC_000008.11:100522633:G:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.100522634G>A, NC_000008.10:g.101534862G>A, NM_198401.4:c.608C>T, NM_198401.3:c.608C>T, NM_001270378.2:c.608C>T, NM_001270378.1:c.608C>T, NM_001270377.2:c.608C>T, NM_001270377.1:c.608C>T, NM_001270379.2:c.608C>T, NM_001270379.1:c.608C>T, NP_940683.1:p.Ala203Val, NP_001257307.1:p.Ala203Val, NP_001257306.1:p.Ala203Val, NP_001257308.1:p.Ala203Val

Select item 14720357654.

rs1472035765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100529795 (GRCh38)
8:101542023 (GRCh37)
Canonical SPDI:: NC_000008.11:100529794:G:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.100529795G>A, NC_000008.10:g.101542023G>A, NM_198401.4:c.39C>T, NM_198401.3:c.39C>T, NM_001270378.2:c.39C>T, NM_001270378.1:c.39C>T, NM_001270377.2:c.39C>T, NM_001270377.1:c.39C>T, NM_001270379.2:c.39C>T, NM_001270379.1:c.39C>T

Select item 14685244535.

rs1468524453 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:100529709 (GRCh38)
8:101541937 (GRCh37)
Canonical SPDI:: NC_000008.11:100529708:T:C
Gene:: ANKRD46 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.100529709T>C, NC_000008.10:g.101541937T>C, NM_198401.4:c.125A>G, NM_198401.3:c.125A>G, NM_001270378.2:c.125A>G, NM_001270378.1:c.125A>G, NM_001270377.2:c.125A>G, NM_001270377.1:c.125A>G, NM_001270379.2:c.125A>G, NM_001270379.1:c.125A>G, NP_940683.1:p.Asp42Gly, NP_001257307.1:p.Asp42Gly, NP_001257306.1:p.Asp42Gly, NP_001257308.1:p.Asp42Gly

Select item 14612998496.

rs1461299849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:100527853 (GRCh38)
8:101540081 (GRCh37)
Canonical SPDI:: NC_000008.11:100527852:C:T
Gene:: ANKRD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.100527853C>T, NC_000008.10:g.101540081C>T, NM_198401.4:c.462G>A, NM_198401.3:c.462G>A, NM_001270378.2:c.462G>A, NM_001270378.1:c.462G>A, NM_001270377.2:c.462G>A, NM_001270377.1:c.462G>A, NM_001270379.2:c.462G>A, NM_001270379.1:c.462G>A

Select item 14464759797.

rs1446475979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:100527901 (GRCh38)
8:101540129 (GRCh37)
Canonical SPDI:: NC_000008.11:100527900:T:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000008.11:g.100527901T>A, NC_000008.10:g.101540129T>A, NM_198401.4:c.414A>T, NM_198401.3:c.414A>T, NM_001270378.2:c.414A>T, NM_001270378.1:c.414A>T, NM_001270377.2:c.414A>T, NM_001270377.1:c.414A>T, NM_001270379.2:c.414A>T, NM_001270379.1:c.414A>T

Select item 14340518038.

rs1434051803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100529553 (GRCh38)
8:101541781 (GRCh37)
Canonical SPDI:: NC_000008.11:100529552:A:G
Gene:: ANKRD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.100529553A>G, NC_000008.10:g.101541781A>G, NM_198401.4:c.281T>C, NM_198401.3:c.281T>C, NM_001270378.2:c.281T>C, NM_001270378.1:c.281T>C, NM_001270377.2:c.281T>C, NM_001270377.1:c.281T>C, NM_001270379.2:c.281T>C, NM_001270379.1:c.281T>C, NP_940683.1:p.Leu94Ser, NP_001257307.1:p.Leu94Ser, NP_001257306.1:p.Leu94Ser, NP_001257308.1:p.Leu94Ser

Select item 14264897639.

rs1426489763 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:100529826 (GRCh38)
8:101542055 (GRCh37)
Canonical SPDI:: NC_000008.11:100529826:A:AA
Gene:: ANKRD46 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100529827dup, NC_000008.10:g.101542055dup, NM_198401.4:c.7dup, NM_198401.3:c.7dup, NM_001270378.2:c.7dup, NM_001270378.1:c.7dup, NM_001270377.2:c.7dup, NM_001270377.1:c.7dup, NM_001270379.2:c.7dup, NM_001270379.1:c.7dup, NP_940683.1:p.Tyr3fs, NP_001257307.1:p.Tyr3fs, NP_001257306.1:p.Tyr3fs, NP_001257308.1:p.Tyr3fs

Select item 140949793710.

rs1409497937 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:100522624 (GRCh38)
8:101534852 (GRCh37)
Canonical SPDI:: NC_000008.11:100522623:A:T
Gene:: ANKRD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.100522624A>T, NC_000008.10:g.101534852A>T, NM_198401.4:c.618T>A, NM_198401.3:c.618T>A, NM_001270378.2:c.618T>A, NM_001270378.1:c.618T>A, NM_001270377.2:c.618T>A, NM_001270377.1:c.618T>A, NM_001270379.2:c.618T>A, NM_001270379.1:c.618T>A

Select item 140562557211.

rs1405625572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:100529723 (GRCh38)
8:101541951 (GRCh37)
Canonical SPDI:: NC_000008.11:100529722:G:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100529723G>A, NC_000008.10:g.101541951G>A, NM_198401.4:c.111C>T, NM_198401.3:c.111C>T, NM_001270378.2:c.111C>T, NM_001270378.1:c.111C>T, NM_001270377.2:c.111C>T, NM_001270377.1:c.111C>T, NM_001270379.2:c.111C>T, NM_001270379.1:c.111C>T

Select item 139272087712.

rs1392720877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:100527975 (GRCh38)
8:101540203 (GRCh37)
Canonical SPDI:: NC_000008.11:100527974:G:A,NC_000008.11:100527974:G:T
Gene:: ANKRD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00548/65 (ALFA)
T=0.00032/9 (TOMMO)
A=0.02772/81 (KOREAN)
HGVS:: NC_000008.11:g.100527975G>A, NC_000008.11:g.100527975G>T, NC_000008.10:g.101540203G>A, NC_000008.10:g.101540203G>T, NM_198401.4:c.340C>T, NM_198401.4:c.340C>A, NM_198401.3:c.340C>T, NM_198401.3:c.340C>A, NM_001270378.2:c.340C>T, NM_001270378.2:c.340C>A, NM_001270378.1:c.340C>T, NM_001270378.1:c.340C>A, NM_001270377.2:c.340C>T, NM_001270377.2:c.340C>A, NM_001270377.1:c.340C>T, NM_001270377.1:c.340C>A, NM_001270379.2:c.340C>T, NM_001270379.2:c.340C>A, NM_001270379.1:c.340C>T, NM_001270379.1:c.340C>A, NP_940683.1:p.Leu114Met, NP_001257307.1:p.Leu114Met, NP_001257306.1:p.Leu114Met, NP_001257308.1:p.Leu114Met

Select item 138666963913.

rs1386669639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:100527852 (GRCh38)
8:101540080 (GRCh37)
Canonical SPDI:: NC_000008.11:100527851:T:G
Gene:: ANKRD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100527852T>G, NC_000008.10:g.101540080T>G, NM_198401.4:c.463A>C, NM_198401.3:c.463A>C, NM_001270378.2:c.463A>C, NM_001270378.1:c.463A>C, NM_001270377.2:c.463A>C, NM_001270377.1:c.463A>C, NM_001270379.2:c.463A>C, NM_001270379.1:c.463A>C, NP_940683.1:p.Ser155Arg, NP_001257307.1:p.Ser155Arg, NP_001257306.1:p.Ser155Arg, NP_001257308.1:p.Ser155Arg

Select item 138606440914.

rs1386064409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100529548 (GRCh38)
8:101541776 (GRCh37)
Canonical SPDI:: NC_000008.11:100529547:A:G
Gene:: ANKRD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100529548A>G, NC_000008.10:g.101541776A>G, NM_198401.4:c.286T>C, NM_198401.3:c.286T>C, NM_001270378.2:c.286T>C, NM_001270378.1:c.286T>C, NM_001270377.2:c.286T>C, NM_001270377.1:c.286T>C, NM_001270379.2:c.286T>C, NM_001270379.1:c.286T>C, NP_940683.1:p.Ser96Pro, NP_001257307.1:p.Ser96Pro, NP_001257306.1:p.Ser96Pro, NP_001257308.1:p.Ser96Pro

Select item 137658254215.

rs1376582542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:100529534 (GRCh38)
8:101541762 (GRCh37)
Canonical SPDI:: NC_000008.11:100529533:T:C
Gene:: ANKRD46 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100529534T>C, NC_000008.10:g.101541762T>C, NM_198401.4:c.300A>G, NM_198401.3:c.300A>G, NM_001270378.2:c.300A>G, NM_001270378.1:c.300A>G, NM_001270377.2:c.300A>G, NM_001270377.1:c.300A>G, NM_001270379.2:c.300A>G, NM_001270379.1:c.300A>G

Select item 137200058816.

rs1372000588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:100529662 (GRCh38)
8:101541890 (GRCh37)
Canonical SPDI:: NC_000008.11:100529661:C:G
Gene:: ANKRD46 (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_000008.11:g.100529662C>G, NC_000008.10:g.101541890C>G, NM_198401.4:c.172G>C, NM_198401.3:c.172G>C, NM_001270378.2:c.172G>C, NM_001270378.1:c.172G>C, NM_001270377.2:c.172G>C, NM_001270377.1:c.172G>C, NM_001270379.2:c.172G>C, NM_001270379.1:c.172G>C, NP_940683.1:p.Val58Leu, NP_001257307.1:p.Val58Leu, NP_001257306.1:p.Val58Leu, NP_001257308.1:p.Val58Leu

Select item 136798305317.

rs1367983053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:100527960 (GRCh38)
8:101540188 (GRCh37)
Canonical SPDI:: NC_000008.11:100527959:C:T
Gene:: ANKRD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100527960C>T, NC_000008.10:g.101540188C>T, NM_198401.4:c.355G>A, NM_198401.3:c.355G>A, NM_001270378.2:c.355G>A, NM_001270378.1:c.355G>A, NM_001270377.2:c.355G>A, NM_001270377.1:c.355G>A, NM_001270379.2:c.355G>A, NM_001270379.1:c.355G>A, NP_940683.1:p.Gly119Arg, NP_001257307.1:p.Gly119Arg, NP_001257306.1:p.Gly119Arg, NP_001257308.1:p.Gly119Arg

Select item 136704028518.

rs1367040285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:100527947 (GRCh38)
8:101540175 (GRCh37)
Canonical SPDI:: NC_000008.11:100527946:T:A
Gene:: ANKRD46 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100527947T>A, NC_000008.10:g.101540175T>A, NM_198401.4:c.368A>T, NM_198401.3:c.368A>T, NM_001270378.2:c.368A>T, NM_001270378.1:c.368A>T, NM_001270377.2:c.368A>T, NM_001270377.1:c.368A>T, NM_001270379.2:c.368A>T, NM_001270379.1:c.368A>T, NP_940683.1:p.Asp123Val, NP_001257307.1:p.Asp123Val, NP_001257306.1:p.Asp123Val, NP_001257308.1:p.Asp123Val

Select item 136610025919.

rs1366100259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100529825 (GRCh38)
8:101542053 (GRCh37)
Canonical SPDI:: NC_000008.11:100529824:A:G
Gene:: ANKRD46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.100529825A>G, NC_000008.10:g.101542053A>G, NM_198401.4:c.9T>C, NM_198401.3:c.9T>C, NM_001270378.2:c.9T>C, NM_001270378.1:c.9T>C, NM_001270377.2:c.9T>C, NM_001270377.1:c.9T>C, NM_001270379.2:c.9T>C, NM_001270379.1:c.9T>C

Select item 135484219620.

rs1354842196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:100527856 (GRCh38)
8:101540084 (GRCh37)
Canonical SPDI:: NC_000008.11:100527855:A:G
Gene:: ANKRD46 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.100527856A>G, NC_000008.10:g.101540084A>G, NM_198401.4:c.459T>C, NM_198401.3:c.459T>C, NM_001270378.2:c.459T>C, NM_001270378.1:c.459T>C, NM_001270377.2:c.459T>C, NM_001270377.1:c.459T>C, NM_001270379.2:c.459T>C, NM_001270379.1:c.459T>C

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