Canonical Allele Identifier: CA2839436
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203524
ClinVar RCV Id: RCV002664337
dbSNP Id: rs745502742
gnomAD v2: 4-6303191-C-T
gnomAD v3: 4-6301464-C-T
gnomAD v4: 4-6301464-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301464C>T , CM000666.2:g.6301464C>T GRCh38
NC_000004.11:g.6303191C>T , CM000666.1:g.6303191C>T GRCh37
NC_000004.10:g.6354092C>T NCBI36
NG_011700.1:g.36615C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1705C>T ENSP00000507852.1:p.Leu569Phe
ENST00000683395.1:c.1646C>T
ENST00000684087.1:c.1669C>T ENSP00000506978.1:p.Leu557Phe
ENST00000506362.2:c.1420C>T ENSP00000424103.2:p.Leu474Phe
ENST00000673642.1:c.1328C>T ENSP00000501242.1:n.1328C>T
ENST00000673991.1:c.1705C>T ENSP00000501033.1:p.Leu569Phe
ENST00000226760.5:c.1669C>T MANE Select ENSP00000226760.1:p.Leu557Phe
ENST00000503569.5:c.1669C>T ENSP00000423337.1:p.Leu557Phe
ENST00000507765.1:n.1854C>T
NM_001145853.1:c.1669C>T NP_001139325.1:p.Leu557Phe
NM_006005.3:c.1669C>T MANE Select NP_005996.2:p.Leu557Phe
XM_017008586.1:c.1678C>T XP_016864075.1:p.Leu560Phe