Canonical Allele Identifier: CA179673

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166605
• ClinVar RCV Id: RCV000152694 ; RCV003147359
• dbSNP Id: rs727503753
• MyVariant Identifiers: chr4:g.6303845T>G (hg19) ; chr4:g.6302118T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302118T>G , CM000666.2:g.6302118T>G	GRCh38
NC_000004.11:g.6303845T>G , CM000666.1:g.6303845T>G	GRCh37
NC_000004.10:g.6354746T>G	NCBI36
NG_011700.1:g.37269T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2359T>G	ENSP00000507852.1:p.Phe787Val
ENST00000683395.1:c.2300T>G
ENST00000684087.1:c.2323T>G	ENSP00000506978.1:p.Phe775Val
ENST00000506362.2:c.2074T>G	ENSP00000424103.2:p.Phe692Val
ENST00000673642.1:c.1982T>G	ENSP00000501242.1:n.1982T>G
ENST00000673991.1:c.2359T>G	ENSP00000501033.1:p.Phe787Val
ENST00000226760.5:c.2323T>G MANE Select	ENSP00000226760.1:p.Phe775Val
ENST00000503569.5:c.2323T>G	ENSP00000423337.1:p.Phe775Val
ENST00000507765.1:n.2508T>G
NM_001145853.1:c.2323T>G	NP_001139325.1:p.Phe775Val
NM_006005.3:c.2323T>G MANE Select	NP_005996.2:p.Phe775Val
XM_017008586.1:c.2332T>G	XP_016864075.1:p.Phe778Val