Canonical Allele Identifier: CA356176908
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301618T>A , CM000666.2:g.6301618T>A GRCh38
NC_000004.11:g.6303345T>A , CM000666.1:g.6303345T>A GRCh37
NC_000004.10:g.6354246T>A NCBI36
NG_011700.1:g.36769T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1859T>A ENSP00000507852.1:p.Leu620Gln
ENST00000683395.1:c.1800T>A
ENST00000684087.1:c.1823T>A ENSP00000506978.1:p.Leu608Gln
ENST00000506362.2:c.1574T>A ENSP00000424103.2:p.Leu525Gln
ENST00000673642.1:c.1482T>A ENSP00000501242.1:n.1482T>A
ENST00000673991.1:c.1859T>A ENSP00000501033.1:p.Leu620Gln
ENST00000226760.5:c.1823T>A MANE Select ENSP00000226760.1:p.Leu608Gln
ENST00000503569.5:c.1823T>A ENSP00000423337.1:p.Leu608Gln
ENST00000507765.1:n.2008T>A
NM_001145853.1:c.1823T>A NP_001139325.1:p.Leu608Gln
NM_006005.3:c.1823T>A MANE Select NP_005996.2:p.Leu608Gln
XM_017008586.1:c.1832T>A XP_016864075.1:p.Leu611Gln