Canonical Allele Identifier: CA253199

Gene: WFS1

Linked Data

• ClinVar Variation Id: 4521
• ClinVar RCV Id: RCV000004779 ; RCV000726781 ; RCV001267554 ; RCV003155015
• dbSNP Id: rs104893883
• MyVariant Identifiers: chr4:g.6304008T>C (hg19) ; chr4:g.6302281T>C (hg38)
• PubMed: PMID:11709537 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302281T>C , CM000666.2:g.6302281T>C	GRCh38
NC_000004.11:g.6304008T>C , CM000666.1:g.6304008T>C	GRCh37
NC_000004.10:g.6354909T>C	NCBI36
NG_011700.1:g.37432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2522T>C	ENSP00000507852.1:p.Leu841Pro
ENST00000683395.1:c.2463T>C
ENST00000684087.1:c.2486T>C	ENSP00000506978.1:p.Leu829Pro
ENST00000506362.2:c.2237T>C	ENSP00000424103.2:p.Leu746Pro
ENST00000673991.1:c.2522T>C	ENSP00000501033.1:p.Leu841Pro
ENST00000226760.5:c.2486T>C MANE Select	ENSP00000226760.1:p.Leu829Pro
ENST00000503569.5:c.2486T>C	ENSP00000423337.1:p.Leu829Pro
ENST00000507765.1:n.2671T>C
NM_001145853.1:c.2486T>C	NP_001139325.1:p.Leu829Pro
NM_006005.3:c.2486T>C MANE Select	NP_005996.2:p.Leu829Pro
XM_017008586.1:c.2495T>C	XP_016864075.1:p.Leu832Pro