Canonical Allele Identifier: CA356177083

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1318843
• ClinVar RCV Id: RCV001753390
• dbSNP Id: rs2109126718
• MyVariant Identifiers: chr4:g.6303432T>C (hg19) ; chr4:g.6301705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301705T>C , CM000666.2:g.6301705T>C	GRCh38
NC_000004.11:g.6303432T>C , CM000666.1:g.6303432T>C	GRCh37
NC_000004.10:g.6354333T>C	NCBI36
NG_011700.1:g.36856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1946T>C	ENSP00000507852.1:p.Leu649Pro
ENST00000683395.1:c.1887T>C
ENST00000684087.1:c.1910T>C	ENSP00000506978.1:p.Leu637Pro
ENST00000506362.2:c.1661T>C	ENSP00000424103.2:p.Leu554Pro
ENST00000673642.1:c.1569T>C	ENSP00000501242.1:n.1569T>C
ENST00000673991.1:c.1946T>C	ENSP00000501033.1:p.Leu649Pro
ENST00000226760.5:c.1910T>C MANE Select	ENSP00000226760.1:p.Leu637Pro
ENST00000503569.5:c.1910T>C	ENSP00000423337.1:p.Leu637Pro
ENST00000507765.1:n.2095T>C
NM_001145853.1:c.1910T>C	NP_001139325.1:p.Leu637Pro
NM_006005.3:c.1910T>C MANE Select	NP_005996.2:p.Leu637Pro
XM_017008586.1:c.1919T>C	XP_016864075.1:p.Leu640Pro