Canonical Allele Identifier: CA438367874

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300809C>A , CM000666.2:g.6300809C>A	GRCh38
NC_000004.11:g.6302536C>A , CM000666.1:g.6302536C>A	GRCh37
NC_000004.10:g.6353437C>A	NCBI36
NG_011700.1:g.35960C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1014C>A MANE Select	NP_005996.2:p.Ile338=
ENST00000226760.5:c.1014C>A MANE Select	ENSP00000226760.1:p.Ile338=
NM_001145853.1:c.1014C>A	NP_001139325.1:p.Ile338=
ENST00000503569.5:c.1014C>A	ENSP00000423337.1:p.Ile338=
ENST00000506362.1:c.647C>A
ENST00000506362.2:c.765C>A	ENSP00000424103.2:p.Ile255=
ENST00000507765.1:n.1199C>A
ENST00000673642.1:c.673C>A	ENSP00000501242.1:p.Arg225=
ENST00000673991.1:c.1050C>A	ENSP00000501033.1:p.Ile350=
ENST00000682275.1:c.1050C>A	ENSP00000507852.1:p.Ile350=
ENST00000683395.1:c.991C>A
ENST00000684087.1:c.1014C>A	ENSP00000506978.1:p.Ile338=
XM_017008586.1:c.1023C>A	XP_016864075.1:p.Ile341=