Canonical Allele Identifier: CA356178487

Gene: WFS1

Linked Data

• ClinVar Variation Id: 517360
• ClinVar RCV Id: RCV000616575 ; RCV001092549 ; RCV003148806 ; RCV003928024
• dbSNP Id: rs1553879004
• MyVariant Identifiers: chr4:g.6303911G>A (hg19) ; chr4:g.6302184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302184G>A , CM000666.2:g.6302184G>A	GRCh38
NC_000004.11:g.6303911G>A , CM000666.1:g.6303911G>A	GRCh37
NC_000004.10:g.6354812G>A	NCBI36
NG_011700.1:g.37335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2425G>A	ENSP00000507852.1:p.Asp809Asn
ENST00000683395.1:c.2366G>A
ENST00000684087.1:c.2389G>A	ENSP00000506978.1:p.Asp797Asn
ENST00000506362.2:c.2140G>A	ENSP00000424103.2:p.Asp714Asn
ENST00000673991.1:c.2425G>A	ENSP00000501033.1:p.Asp809Asn
ENST00000226760.5:c.2389G>A MANE Select	ENSP00000226760.1:p.Asp797Asn
ENST00000503569.5:c.2389G>A	ENSP00000423337.1:p.Asp797Asn
ENST00000507765.1:n.2574G>A
NM_001145853.1:c.2389G>A	NP_001139325.1:p.Asp797Asn
NM_006005.3:c.2389G>A MANE Select	NP_005996.2:p.Asp797Asn
XM_017008586.1:c.2398G>A	XP_016864075.1:p.Asp800Asn