Canonical Allele Identifier: CA1435773511
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1731022701
gnomAD v4: 4-6303078-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6303078C>T , CM000666.2:g.6303078C>T GRCh38
NC_000004.11:g.6304805C>T , CM000666.1:g.6304805C>T GRCh37
NC_000004.10:g.6355706C>T NCBI36
NG_011700.1:g.38229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*610C>T ENSP00000507852.1:n.*610C>T
ENST00000683395.1:c.3260C>T
ENST00000684087.1:c.*610C>T ENSP00000506978.1:n.*610C>T
ENST00000673991.1:c.*610C>T ENSP00000501033.1:n.*610C>T
ENST00000226760.5:c.*610C>T MANE Select ENSP00000226760.1:n.*610C>T
ENST00000507765.1:n.3468C>T
NM_001145853.1:c.*610C>T NP_001139325.1:n.*610C>T
NM_006005.3:c.*610C>T MANE Select NP_005996.2:n.*610C>T
XM_017008586.1:c.*610C>T XP_016864075.1:n.*610C>T
XR_001741566.2:n.1867G>A
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