Canonical Allele Identifier: CA2669844050
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6303042-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6303042G>T , CM000666.2:g.6303042G>T GRCh38
NC_000004.11:g.6304769G>T , CM000666.1:g.6304769G>T GRCh37
NC_000004.10:g.6355670G>T NCBI36
NG_011700.1:g.38193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*574G>T ENSP00000507852.1:n.*574G>T
ENST00000683395.1:c.3224G>T
ENST00000684087.1:c.*574G>T ENSP00000506978.1:n.*574G>T
ENST00000673991.1:c.*574G>T ENSP00000501033.1:n.*574G>T
ENST00000226760.5:c.*574G>T MANE Select ENSP00000226760.1:n.*574G>T
ENST00000507765.1:n.3432G>T
NM_001145853.1:c.*574G>T NP_001139325.1:n.*574G>T
NM_006005.3:c.*574G>T MANE Select NP_005996.2:n.*574G>T
XM_017008586.1:c.*574G>T XP_016864075.1:n.*574G>T
XR_001741566.2:n.1903C>A