Canonical Allele Identifier: CA356177015
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301668A>T , CM000666.2:g.6301668A>T GRCh38
NC_000004.11:g.6303395A>T , CM000666.1:g.6303395A>T GRCh37
NC_000004.10:g.6354296A>T NCBI36
NG_011700.1:g.36819A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1909A>T ENSP00000507852.1:p.Lys637Ter
ENST00000683395.1:c.1850A>T
ENST00000684087.1:c.1873A>T ENSP00000506978.1:p.Lys625Ter
ENST00000506362.2:c.1624A>T ENSP00000424103.2:p.Lys542Ter
ENST00000673642.1:c.1532A>T ENSP00000501242.1:n.1532A>T
ENST00000673991.1:c.1909A>T ENSP00000501033.1:p.Lys637Ter
ENST00000226760.5:c.1873A>T MANE Select ENSP00000226760.1:p.Lys625Ter
ENST00000503569.5:c.1873A>T ENSP00000423337.1:p.Lys625Ter
ENST00000507765.1:n.2058A>T
NM_001145853.1:c.1873A>T NP_001139325.1:p.Lys625Ter
NM_006005.3:c.1873A>T MANE Select NP_005996.2:p.Lys625Ter
XM_017008586.1:c.1882A>T XP_016864075.1:p.Lys628Ter