Canonical Allele Identifier: CA356173823

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2184628
• ClinVar RCV Id: RCV002603401
• dbSNP Id: rs764523830
• gnomAD v2: 4-6302412-T-C
• gnomAD v4: 4-6300685-T-C
• MyVariant Identifiers: chr4:g.6302412T>C (hg19) ; chr4:g.6300685T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.926T>C	ENSP00000507852.1:p.Met309Thr
ENST00000683395.1:c.867T>C
ENST00000684087.1:c.890T>C	ENSP00000506978.1:p.Met297Thr
ENST00000506362.2:c.641T>C	ENSP00000424103.2:p.Met214Thr
ENST00000673642.1:c.661-112T>C	ENSP00000501242.1:n.661-112T>C
ENST00000673991.1:c.926T>C	ENSP00000501033.1:p.Met309Thr
ENST00000226760.5:c.890T>C MANE Select	ENSP00000226760.1:p.Met297Thr
ENST00000503569.5:c.890T>C	ENSP00000423337.1:p.Met297Thr
ENST00000506362.1:c.523T>C
ENST00000507765.1:n.1075T>C
ENST00000513395.1:n.448T>C
NM_001145853.1:c.890T>C	NP_001139325.1:p.Met297Thr
NM_006005.3:c.890T>C MANE Select	NP_005996.2:p.Met297Thr
XM_017008586.1:c.899T>C	XP_016864075.1:p.Met300Thr