Canonical Allele Identifier: CA10618995

Gene: WFS1

Linked Data

• ClinVar Variation Id: 349316
• ClinVar RCV Id: RCV000265550 ; RCV000320553 ; RCV003766010
• dbSNP Id: rs886059528
• gnomAD v2: 4-6302621-G-A
• gnomAD v4: 4-6300894-G-A
• MyVariant Identifiers: chr4:g.6302621G>A (hg19) ; chr4:g.6300894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300894G>A , CM000666.2:g.6300894G>A	GRCh38
NC_000004.11:g.6302621G>A , CM000666.1:g.6302621G>A	GRCh37
NC_000004.10:g.6353522G>A	NCBI36
NG_011700.1:g.36045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1135G>A	ENSP00000507852.1:p.Asp379Asn
ENST00000683395.1:c.1076G>A
ENST00000684087.1:c.1099G>A	ENSP00000506978.1:p.Asp367Asn
ENST00000506362.2:c.850G>A	ENSP00000424103.2:p.Asp284Asn
ENST00000673642.1:c.758G>A	ENSP00000501242.1:p.Gly253Glu
ENST00000673991.1:c.1135G>A	ENSP00000501033.1:p.Asp379Asn
ENST00000226760.5:c.1099G>A MANE Select	ENSP00000226760.1:p.Asp367Asn
ENST00000503569.5:c.1099G>A	ENSP00000423337.1:p.Asp367Asn
ENST00000506362.1:c.732G>A
ENST00000507765.1:n.1284G>A
NM_001145853.1:c.1099G>A	NP_001139325.1:p.Asp367Asn
NM_006005.3:c.1099G>A MANE Select	NP_005996.2:p.Asp367Asn
XM_017008586.1:c.1108G>A	XP_016864075.1:p.Asp370Asn