Canonical Allele Identifier: CA1435773245
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301322C= , CM000666.2:g.6301322C= GRCh38
NC_000004.11:g.6303049C= , CM000666.1:g.6303049C= GRCh37
NC_000004.10:g.6353950C= NCBI36
NG_011700.1:g.36473C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1563C= ENSP00000507852.1:p.Val521=
ENST00000683395.1:c.1504C=
ENST00000684087.1:c.1527C= ENSP00000506978.1:p.Val509=
ENST00000506362.2:c.1278C= ENSP00000424103.2:p.Val426=
ENST00000673642.1:c.1186C= ENSP00000501242.1:p.Leu396=
ENST00000673991.1:c.1563C= ENSP00000501033.1:p.Val521=
ENST00000226760.5:c.1527C= MANE Select ENSP00000226760.1:p.Val509=
ENST00000503569.5:c.1527C= ENSP00000423337.1:p.Val509=
ENST00000507765.1:n.1712C=
NM_001145853.1:c.1527C= NP_001139325.1:p.Val509=
NM_006005.3:c.1527C= MANE Select NP_005996.2:p.Val509=
XM_017008586.1:c.1536C= XP_016864075.1:p.Val512=