Canonical Allele Identifier: CA356173910

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302454G>C (hg19) ; chr4:g.6300727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300727G>C , CM000666.2:g.6300727G>C	GRCh38
NC_000004.11:g.6302454G>C , CM000666.1:g.6302454G>C	GRCh37
NC_000004.10:g.6353355G>C	NCBI36
NG_011700.1:g.35878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.968G>C	ENSP00000507852.1:p.Gly323Ala
ENST00000683395.1:c.909G>C
ENST00000684087.1:c.932G>C	ENSP00000506978.1:p.Gly311Ala
ENST00000506362.2:c.683G>C	ENSP00000424103.2:p.Gly228Ala
ENST00000673642.1:c.661-70G>C	ENSP00000501242.1:n.661-70G>C
ENST00000673991.1:c.968G>C	ENSP00000501033.1:p.Gly323Ala
ENST00000226760.5:c.932G>C MANE Select	ENSP00000226760.1:p.Gly311Ala
ENST00000503569.5:c.932G>C	ENSP00000423337.1:p.Gly311Ala
ENST00000506362.1:c.565G>C
ENST00000507765.1:n.1117G>C
ENST00000513395.1:n.490G>C
NM_001145853.1:c.932G>C	NP_001139325.1:p.Gly311Ala
NM_006005.3:c.932G>C MANE Select	NP_005996.2:p.Gly311Ala
XM_017008586.1:c.941G>C	XP_016864075.1:p.Gly314Ala