Canonical Allele Identifier: CA356178003

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1969912
• ClinVar RCV Id: RCV002760272
• gnomAD v4: 4-6301974-A-G
• MyVariant Identifiers: chr4:g.6303701A>G (hg19) ; chr4:g.6301974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301974A>G , CM000666.2:g.6301974A>G	GRCh38
NC_000004.11:g.6303701A>G , CM000666.1:g.6303701A>G	GRCh37
NC_000004.10:g.6354602A>G	NCBI36
NG_011700.1:g.37125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2215A>G	ENSP00000507852.1:p.Ile739Val
ENST00000683395.1:c.2156A>G
ENST00000684087.1:c.2179A>G	ENSP00000506978.1:p.Ile727Val
ENST00000506362.2:c.1930A>G	ENSP00000424103.2:p.Ile644Val
ENST00000673642.1:c.1838A>G	ENSP00000501242.1:n.1838A>G
ENST00000673991.1:c.2215A>G	ENSP00000501033.1:p.Ile739Val
ENST00000226760.5:c.2179A>G MANE Select	ENSP00000226760.1:p.Ile727Val
ENST00000503569.5:c.2179A>G	ENSP00000423337.1:p.Ile727Val
ENST00000507765.1:n.2364A>G
NM_001145853.1:c.2179A>G	NP_001139325.1:p.Ile727Val
NM_006005.3:c.2179A>G MANE Select	NP_005996.2:p.Ile727Val
XM_017008586.1:c.2188A>G	XP_016864075.1:p.Ile730Val