Canonical Allele Identifier: CA356176043
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301369A>T , CM000666.2:g.6301369A>T GRCh38
NC_000004.11:g.6303096A>T , CM000666.1:g.6303096A>T GRCh37
NC_000004.10:g.6353997A>T NCBI36
NG_011700.1:g.36520A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1610A>T ENSP00000507852.1:p.Lys537Met
ENST00000683395.1:c.1551A>T
ENST00000684087.1:c.1574A>T ENSP00000506978.1:p.Lys525Met
ENST00000506362.2:c.1325A>T ENSP00000424103.2:p.Lys442Met
ENST00000673642.1:c.1233A>T ENSP00000501242.1:p.Gln411His
ENST00000673991.1:c.1610A>T ENSP00000501033.1:p.Lys537Met
ENST00000226760.5:c.1574A>T MANE Select ENSP00000226760.1:p.Lys525Met
ENST00000503569.5:c.1574A>T ENSP00000423337.1:p.Lys525Met
ENST00000507765.1:n.1759A>T
NM_001145853.1:c.1574A>T NP_001139325.1:p.Lys525Met
NM_006005.3:c.1574A>T MANE Select NP_005996.2:p.Lys525Met
XM_017008586.1:c.1583A>T XP_016864075.1:p.Lys528Met