Canonical Allele Identifier: CA356179319

Gene: WFS1

Linked Data

• dbSNP Id: rs1342496193
• MyVariant Identifiers: chr4:g.6304107A>C (hg19) ; chr4:g.6302380A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302380A>C , CM000666.2:g.6302380A>C	GRCh38
NC_000004.11:g.6304107A>C , CM000666.1:g.6304107A>C	GRCh37
NC_000004.10:g.6355008A>C	NCBI36
NG_011700.1:g.37531A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2621A>C	ENSP00000507852.1:p.Lys874Thr
ENST00000683395.1:c.2562A>C
ENST00000684087.1:c.2585A>C	ENSP00000506978.1:p.Lys862Thr
ENST00000506362.2:c.2336A>C	ENSP00000424103.2:p.Lys779Thr
ENST00000673991.1:c.2621A>C	ENSP00000501033.1:p.Lys874Thr
ENST00000226760.5:c.2585A>C MANE Select	ENSP00000226760.1:p.Lys862Thr
ENST00000503569.5:c.2585A>C	ENSP00000423337.1:p.Lys862Thr
ENST00000507765.1:n.2770A>C
NM_001145853.1:c.2585A>C	NP_001139325.1:p.Lys862Thr
NM_006005.3:c.2585A>C MANE Select	NP_005996.2:p.Lys862Thr
XM_017008586.1:c.2594A>C	XP_016864075.1:p.Lys865Thr