Canonical Allele Identifier: CA356178530

Gene: WFS1

Linked Data

• ClinVar Variation Id: 430096
• ClinVar RCV Id: RCV000494515 ; RCV003335407
• dbSNP Id: rs1131691778
• MyVariant Identifiers: chr4:g.6303933T>C (hg19) ; chr4:g.6302206T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302206T>C , CM000666.2:g.6302206T>C	GRCh38
NC_000004.11:g.6303933T>C , CM000666.1:g.6303933T>C	GRCh37
NC_000004.10:g.6354834T>C	NCBI36
NG_011700.1:g.37357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2447T>C	ENSP00000507852.1:p.Leu816Pro
ENST00000683395.1:c.2388T>C
ENST00000684087.1:c.2411T>C	ENSP00000506978.1:p.Leu804Pro
ENST00000506362.2:c.2162T>C	ENSP00000424103.2:p.Leu721Pro
ENST00000673991.1:c.2447T>C	ENSP00000501033.1:p.Leu816Pro
ENST00000226760.5:c.2411T>C MANE Select	ENSP00000226760.1:p.Leu804Pro
ENST00000503569.5:c.2411T>C	ENSP00000423337.1:p.Leu804Pro
ENST00000507765.1:n.2596T>C
NM_001145853.1:c.2411T>C	NP_001139325.1:p.Leu804Pro
NM_006005.3:c.2411T>C MANE Select	NP_005996.2:p.Leu804Pro
XM_017008586.1:c.2420T>C	XP_016864075.1:p.Leu807Pro