Canonical Allele Identifier: CA2839140

Gene: WFS1

Linked Data

• dbSNP Id: rs764523830
• ExAC: 4:6302412 T / A
• gnomAD v2: 4-6302412-T-A
• gnomAD v3: 4-6300685-T-A
• gnomAD v4: 4-6300685-T-A
• MyVariant Identifiers: chr4:g.6302412T>A (hg19) ; chr4:g.6300685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300685T>A , CM000666.2:g.6300685T>A	GRCh38
NC_000004.11:g.6302412T>A , CM000666.1:g.6302412T>A	GRCh37
NC_000004.10:g.6353313T>A	NCBI36
NG_011700.1:g.35836T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.926T>A	ENSP00000507852.1:p.Met309Lys
ENST00000683395.1:c.867T>A
ENST00000684087.1:c.890T>A	ENSP00000506978.1:p.Met297Lys
ENST00000506362.2:c.641T>A	ENSP00000424103.2:p.Met214Lys
ENST00000673642.1:c.661-112T>A	ENSP00000501242.1:n.661-112T>A
ENST00000673991.1:c.926T>A	ENSP00000501033.1:p.Met309Lys
ENST00000226760.5:c.890T>A MANE Select	ENSP00000226760.1:p.Met297Lys
ENST00000503569.5:c.890T>A	ENSP00000423337.1:p.Met297Lys
ENST00000506362.1:c.523T>A
ENST00000507765.1:n.1075T>A
ENST00000513395.1:n.448T>A
NM_001145853.1:c.890T>A	NP_001139325.1:p.Met297Lys
NM_006005.3:c.890T>A MANE Select	NP_005996.2:p.Met297Lys
XM_017008586.1:c.899T>A	XP_016864075.1:p.Met300Lys