Canonical Allele Identifier: CA91798020
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 904524
ClinVar RCV Id: RCV001152503 RCV001152502 RCV003128312
dbSNP Id: rs71530916
gnomAD v2: 4-6304264-C-T
gnomAD v3: 4-6302537-C-T
gnomAD v4: 4-6302537-C-T
MyVariant Identifiers: chr4:g.6304264C>T (hg19) chr4:g.6302537C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302537C>T , CM000666.2:g.6302537C>T GRCh38
NC_000004.11:g.6304264C>T , CM000666.1:g.6304264C>T GRCh37
NC_000004.10:g.6355165C>T NCBI36
NG_011700.1:g.37688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*69C>T ENSP00000507852.1:n.*69C>T
ENST00000683395.1:c.2719C>T
ENST00000684087.1:c.*69C>T ENSP00000506978.1:n.*69C>T
ENST00000506362.2:c.*69C>T ENSP00000424103.2:n.*69C>T
ENST00000673991.1:c.*69C>T ENSP00000501033.1:n.*69C>T
ENST00000226760.5:c.*69C>T MANE Select ENSP00000226760.1:n.*69C>T
ENST00000503569.5:c.*69C>T ENSP00000423337.1:n.*69C>T
ENST00000507765.1:n.2927C>T
NM_001145853.1:c.*69C>T NP_001139325.1:n.*69C>T
NM_006005.3:c.*69C>T MANE Select NP_005996.2:n.*69C>T
XM_017008586.1:c.*69C>T XP_016864075.1:n.*69C>T
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