Canonical Allele Identifier: CA356176464
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301462T>C , CM000666.2:g.6301462T>C GRCh38
NC_000004.11:g.6303189T>C , CM000666.1:g.6303189T>C GRCh37
NC_000004.10:g.6354090T>C NCBI36
NG_011700.1:g.36613T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1703T>C ENSP00000507852.1:p.Leu568Pro
ENST00000683395.1:c.1644T>C
ENST00000684087.1:c.1667T>C ENSP00000506978.1:p.Leu556Pro
ENST00000506362.2:c.1418T>C ENSP00000424103.2:p.Leu473Pro
ENST00000673642.1:c.1326T>C ENSP00000501242.1:n.1326T>C
ENST00000673991.1:c.1703T>C ENSP00000501033.1:p.Leu568Pro
ENST00000226760.5:c.1667T>C MANE Select ENSP00000226760.1:p.Leu556Pro
ENST00000503569.5:c.1667T>C ENSP00000423337.1:p.Leu556Pro
ENST00000507765.1:n.1852T>C
NM_001145853.1:c.1667T>C NP_001139325.1:p.Leu556Pro
NM_006005.3:c.1667T>C MANE Select NP_005996.2:p.Leu556Pro
XM_017008586.1:c.1676T>C XP_016864075.1:p.Leu559Pro