Canonical Allele Identifier: CA179671

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166604
• ClinVar RCV Id: RCV000152693 ; RCV003128187
• dbSNP Id: rs727503752
• gnomAD v4: 4-6302088-T-C
• MyVariant Identifiers: chr4:g.6303815T>C (hg19) ; chr4:g.6302088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302088T>C , CM000666.2:g.6302088T>C	GRCh38
NC_000004.11:g.6303815T>C , CM000666.1:g.6303815T>C	GRCh37
NC_000004.10:g.6354716T>C	NCBI36
NG_011700.1:g.37239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2329T>C	ENSP00000507852.1:p.Cys777Arg
ENST00000683395.1:c.2270T>C
ENST00000684087.1:c.2293T>C	ENSP00000506978.1:p.Cys765Arg
ENST00000506362.2:c.2044T>C	ENSP00000424103.2:p.Cys682Arg
ENST00000673642.1:c.1952T>C	ENSP00000501242.1:n.1952T>C
ENST00000673991.1:c.2329T>C	ENSP00000501033.1:p.Cys777Arg
ENST00000226760.5:c.2293T>C MANE Select	ENSP00000226760.1:p.Cys765Arg
ENST00000503569.5:c.2293T>C	ENSP00000423337.1:p.Cys765Arg
ENST00000507765.1:n.2478T>C
NM_001145853.1:c.2293T>C	NP_001139325.1:p.Cys765Arg
NM_006005.3:c.2293T>C MANE Select	NP_005996.2:p.Cys765Arg
XM_017008586.1:c.2302T>C	XP_016864075.1:p.Cys768Arg