Canonical Allele Identifier: CA1435768970
Community Standard Title: NM_006005.3(WFS1):c.676C= (p.Gln226=)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291961C= , CM000666.2:g.6291961C= GRCh38
NC_000004.11:g.6293688C= , CM000666.1:g.6293688C= GRCh37
NC_000004.10:g.6344589C= NCBI36
NG_011700.1:g.27112C=

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.676C= MANE Select NP_005996.2:p.Gln226=
ENST00000226760.5:c.676C= MANE Select ENSP00000226760.1:p.Gln226=
NM_001145853.1:c.676C= NP_001139325.1:p.Gln226=
ENST00000503569.5:c.676C= ENSP00000423337.1:p.Gln226=
ENST00000506362.1:c.273C=
ENST00000506362.2:c.427C= ENSP00000424103.2:p.Gln143=
ENST00000507765.1:n.861C=
ENST00000673642.1:c.475C= ENSP00000501242.1:p.Gln159=
ENST00000673991.1:c.676C= ENSP00000501033.1:p.Gln226=
ENST00000682275.1:c.676C= ENSP00000507852.1:p.Gln226=
ENST00000683395.1:c.653C=
ENST00000684087.1:c.676C= ENSP00000506978.1:p.Gln226=
XM_017008586.1:c.685C= XP_016864075.1:p.Gln229=