Canonical Allele Identifier: CA10606914

Gene: WFS1

Linked Data

• ClinVar Variation Id: 290817
• ClinVar RCV Id: RCV000374776
• dbSNP Id: rs886044563
• MyVariant Identifiers: chr4:g.6302459C>T (hg19) ; chr4:g.6300732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300732C>T , CM000666.2:g.6300732C>T	GRCh38
NC_000004.11:g.6302459C>T , CM000666.1:g.6302459C>T	GRCh37
NC_000004.10:g.6353360C>T	NCBI36
NG_011700.1:g.35883C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.973C>T	ENSP00000507852.1:p.His325Tyr
ENST00000683395.1:c.914C>T
ENST00000684087.1:c.937C>T	ENSP00000506978.1:p.His313Tyr
ENST00000506362.2:c.688C>T	ENSP00000424103.2:p.His230Tyr
ENST00000673642.1:c.661-65C>T	ENSP00000501242.1:n.661-65C>T
ENST00000673991.1:c.973C>T	ENSP00000501033.1:p.His325Tyr
ENST00000226760.5:c.937C>T MANE Select	ENSP00000226760.1:p.His313Tyr
ENST00000503569.5:c.937C>T	ENSP00000423337.1:p.His313Tyr
ENST00000506362.1:c.570C>T
ENST00000507765.1:n.1122C>T
ENST00000513395.1:n.495C>T
NM_001145853.1:c.937C>T	NP_001139325.1:p.His313Tyr
NM_006005.3:c.937C>T MANE Select	NP_005996.2:p.His313Tyr
XM_017008586.1:c.946C>T	XP_016864075.1:p.His316Tyr