Canonical Allele Identifier: CA438210501

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6279311A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277584A>C , CM000666.2:g.6277584A>C	GRCh38
NC_000004.11:g.6279311A>C , CM000666.1:g.6279311A>C	GRCh37
NC_000004.10:g.6330212A>C	NCBI36
NG_011700.1:g.12735A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000506588.6:n.299A>C
ENST00000682059.1:c.129A>C	ENSP00000507988.1:p.Ala43=
ENST00000682275.1:c.129A>C	ENSP00000507852.1:p.Ala43=
ENST00000683395.1:c.119A>C
ENST00000684054.1:c.129A>C	ENSP00000507120.1:p.Ala43=
ENST00000684087.1:c.129A>C	ENSP00000506978.1:p.Ala43=
ENST00000684700.1:c.129A>C	ENSP00000507806.1:p.Ala43=
ENST00000506362.2:c.-18+7570A>C	ENSP00000424103.2:n.-18+7570A>C
ENST00000673991.1:c.129A>C	ENSP00000501033.1:p.Ala43=
ENST00000674051.1:c.67-64A>C	ENSP00000501083.1:n.67-64A>C
ENST00000226760.5:c.129A>C MANE Select	ENSP00000226760.1:p.Ala43=
ENST00000503569.5:c.129A>C	ENSP00000423337.1:p.Ala43=
ENST00000506588.5:n.299A>C
NM_001145853.1:c.129A>C	NP_001139325.1:p.Ala43=
NM_006005.3:c.129A>C MANE Select	NP_005996.2:p.Ala43=
XM_017008586.1:c.138A>C	XP_016864075.1:p.Ala46=