Canonical Allele Identifier: CA2839604

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1598253
• ClinVar RCV Id: RCV002120291 ; RCV002500009
• dbSNP Id: rs375408391
• ExAC: 4:6303640 C / T
• gnomAD v2: 4-6303640-C-T
• gnomAD v3: 4-6301913-C-T
• gnomAD v4: 4-6301913-C-T
• COSMIC: COSM4125483
• MyVariant Identifiers: chr4:g.6303640C>T (hg19) ; chr4:g.6301913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301913C>T , CM000666.2:g.6301913C>T	GRCh38
NC_000004.11:g.6303640C>T , CM000666.1:g.6303640C>T	GRCh37
NC_000004.10:g.6354541C>T	NCBI36
NG_011700.1:g.37064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2154C>T	ENSP00000507852.1:p.Tyr718=
ENST00000683395.1:c.2095C>T
ENST00000684087.1:c.2118C>T	ENSP00000506978.1:p.Tyr706=
ENST00000506362.2:c.1869C>T	ENSP00000424103.2:p.Tyr623=
ENST00000673642.1:c.1777C>T	ENSP00000501242.1:n.1777C>T
ENST00000673991.1:c.2154C>T	ENSP00000501033.1:p.Tyr718=
ENST00000226760.5:c.2118C>T MANE Select	ENSP00000226760.1:p.Tyr706=
ENST00000503569.5:c.2118C>T	ENSP00000423337.1:p.Tyr706=
ENST00000507765.1:n.2303C>T
NM_001145853.1:c.2118C>T	NP_001139325.1:p.Tyr706=
NM_006005.3:c.2118C>T MANE Select	NP_005996.2:p.Tyr706=
XM_017008586.1:c.2127C>T	XP_016864075.1:p.Tyr709=