Canonical Allele Identifier: CA261750

Gene: WFS1

Linked Data

• ClinVar Variation Id: 45446
• ClinVar RCV Id: RCV000038650
• dbSNP Id: rs142668478
• gnomAD v4: 4-6301849-G-C
• MyVariant Identifiers: chr4:g.6303576G>C (hg19) ; chr4:g.6301849G>C (hg38)
• PubMed: PMID:18518985

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301849G>C , CM000666.2:g.6301849G>C	GRCh38
NC_000004.11:g.6303576G>C , CM000666.1:g.6303576G>C	GRCh37
NC_000004.10:g.6354477G>C	NCBI36
NG_011700.1:g.37000G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2090G>C	ENSP00000507852.1:p.Arg697Pro
ENST00000683395.1:c.2031G>C
ENST00000684087.1:c.2054G>C	ENSP00000506978.1:p.Arg685Pro
ENST00000506362.2:c.1805G>C	ENSP00000424103.2:p.Arg602Pro
ENST00000673642.1:c.1713G>C	ENSP00000501242.1:n.1713G>C
ENST00000673991.1:c.2090G>C	ENSP00000501033.1:p.Arg697Pro
ENST00000226760.5:c.2054G>C MANE Select	ENSP00000226760.1:p.Arg685Pro
ENST00000503569.5:c.2054G>C	ENSP00000423337.1:p.Arg685Pro
ENST00000507765.1:n.2239G>C
NM_001145853.1:c.2054G>C	NP_001139325.1:p.Arg685Pro
NM_006005.3:c.2054G>C MANE Select	NP_005996.2:p.Arg685Pro
XM_017008586.1:c.2063G>C	XP_016864075.1:p.Arg688Pro