Canonical Allele Identifier: CA1058893354
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1731019305
gnomAD v3: 4-6302996-C-A
gnomAD v4: 4-6302996-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302996C>A , CM000666.2:g.6302996C>A GRCh38
NC_000004.11:g.6304723C>A , CM000666.1:g.6304723C>A GRCh37
NC_000004.10:g.6355624C>A NCBI36
NG_011700.1:g.38147C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*528C>A ENSP00000507852.1:n.*528C>A
ENST00000683395.1:c.3178C>A
ENST00000684087.1:c.*528C>A ENSP00000506978.1:n.*528C>A
ENST00000673991.1:c.*528C>A ENSP00000501033.1:n.*528C>A
ENST00000226760.5:c.*528C>A MANE Select ENSP00000226760.1:n.*528C>A
ENST00000507765.1:n.3386C>A
NM_001145853.1:c.*528C>A NP_001139325.1:n.*528C>A
NM_006005.3:c.*528C>A MANE Select NP_005996.2:n.*528C>A
XM_017008586.1:c.*528C>A XP_016864075.1:n.*528C>A
XR_001741566.2:n.1949G>T
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