Canonical Allele Identifier: CA438368513

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6303619G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301892G>C , CM000666.2:g.6301892G>C	GRCh38
NC_000004.11:g.6303619G>C , CM000666.1:g.6303619G>C	GRCh37
NC_000004.10:g.6354520G>C	NCBI36
NG_011700.1:g.37043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2133G>C	ENSP00000507852.1:p.Thr711=
ENST00000683395.1:c.2074G>C
ENST00000684087.1:c.2097G>C	ENSP00000506978.1:p.Thr699=
ENST00000506362.2:c.1848G>C	ENSP00000424103.2:p.Thr616=
ENST00000673642.1:c.1756G>C	ENSP00000501242.1:n.1756G>C
ENST00000673991.1:c.2133G>C	ENSP00000501033.1:p.Thr711=
ENST00000226760.5:c.2097G>C MANE Select	ENSP00000226760.1:p.Thr699=
ENST00000503569.5:c.2097G>C	ENSP00000423337.1:p.Thr699=
ENST00000507765.1:n.2282G>C
NM_001145853.1:c.2097G>C	NP_001139325.1:p.Thr699=
NM_006005.3:c.2097G>C MANE Select	NP_005996.2:p.Thr699=
XM_017008586.1:c.2106G>C	XP_016864075.1:p.Thr702=