Canonical Allele Identifier: CA356176763

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1949627
• ClinVar RCV Id: RCV002676359
• dbSNP Id: rs770895770
• MyVariant Identifiers: chr4:g.6303279C>T (hg19) ; chr4:g.6301552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301552C>T , CM000666.2:g.6301552C>T	GRCh38
NC_000004.11:g.6303279C>T , CM000666.1:g.6303279C>T	GRCh37
NC_000004.10:g.6354180C>T	NCBI36
NG_011700.1:g.36703C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1793C>T	ENSP00000507852.1:p.Ala598Val
ENST00000683395.1:c.1734C>T
ENST00000684087.1:c.1757C>T	ENSP00000506978.1:p.Ala586Val
ENST00000506362.2:c.1508C>T	ENSP00000424103.2:p.Ala503Val
ENST00000673642.1:c.1416C>T	ENSP00000501242.1:n.1416C>T
ENST00000673991.1:c.1793C>T	ENSP00000501033.1:p.Ala598Val
ENST00000226760.5:c.1757C>T MANE Select	ENSP00000226760.1:p.Ala586Val
ENST00000503569.5:c.1757C>T	ENSP00000423337.1:p.Ala586Val
ENST00000507765.1:n.1942C>T
NM_001145853.1:c.1757C>T	NP_001139325.1:p.Ala586Val
NM_006005.3:c.1757C>T MANE Select	NP_005996.2:p.Ala586Val
XM_017008586.1:c.1766C>T	XP_016864075.1:p.Ala589Val