Canonical Allele Identifier: CA356178134

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6303734G>T (hg19) ; chr4:g.6302007G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302007G>T , CM000666.2:g.6302007G>T	GRCh38
NC_000004.11:g.6303734G>T , CM000666.1:g.6303734G>T	GRCh37
NC_000004.10:g.6354635G>T	NCBI36
NG_011700.1:g.37158G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2248G>T	ENSP00000507852.1:p.Ala750Ser
ENST00000683395.1:c.2189G>T
ENST00000684087.1:c.2212G>T	ENSP00000506978.1:p.Ala738Ser
ENST00000506362.2:c.1963G>T	ENSP00000424103.2:p.Ala655Ser
ENST00000673642.1:c.1871G>T	ENSP00000501242.1:n.1871G>T
ENST00000673991.1:c.2248G>T	ENSP00000501033.1:p.Ala750Ser
ENST00000226760.5:c.2212G>T MANE Select	ENSP00000226760.1:p.Ala738Ser
ENST00000503569.5:c.2212G>T	ENSP00000423337.1:p.Ala738Ser
ENST00000507765.1:n.2397G>T
NM_001145853.1:c.2212G>T	NP_001139325.1:p.Ala738Ser
NM_006005.3:c.2212G>T MANE Select	NP_005996.2:p.Ala738Ser
XM_017008586.1:c.2221G>T	XP_016864075.1:p.Ala741Ser