Canonical Allele Identifier: CA2839213

Gene: WFS1

Linked Data

• ClinVar Variation Id: 430094
• ClinVar RCV Id: RCV000493450
• dbSNP Id: rs781575919
• ExAC: 4:6302604 C / T
• gnomAD v2: 4-6302604-C-T
• gnomAD v3: 4-6300877-C-T
• gnomAD v4: 4-6300877-C-T
• COSMIC: COSM1665022
• MyVariant Identifiers: chr4:g.6302604C>T (hg19) ; chr4:g.6300877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300877C>T , CM000666.2:g.6300877C>T	GRCh38
NC_000004.11:g.6302604C>T , CM000666.1:g.6302604C>T	GRCh37
NC_000004.10:g.6353505C>T	NCBI36
NG_011700.1:g.36028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1118C>T	ENSP00000507852.1:p.Thr373Ile
ENST00000683395.1:c.1059C>T
ENST00000684087.1:c.1082C>T	ENSP00000506978.1:p.Thr361Ile
ENST00000506362.2:c.833C>T	ENSP00000424103.2:p.Thr278Ile
ENST00000673642.1:c.741C>T	ENSP00000501242.1:p.His247=
ENST00000673991.1:c.1118C>T	ENSP00000501033.1:p.Thr373Ile
ENST00000226760.5:c.1082C>T MANE Select	ENSP00000226760.1:p.Thr361Ile
ENST00000503569.5:c.1082C>T	ENSP00000423337.1:p.Thr361Ile
ENST00000506362.1:c.715C>T
ENST00000507765.1:n.1267C>T
NM_001145853.1:c.1082C>T	NP_001139325.1:p.Thr361Ile
NM_006005.3:c.1082C>T MANE Select	NP_005996.2:p.Thr361Ile
XM_017008586.1:c.1091C>T	XP_016864075.1:p.Thr364Ile