Canonical Allele Identifier: CA2839813

Gene: WFS1

Linked Data

• ClinVar Variation Id: 771581
• ClinVar RCV Id: RCV003147567
• dbSNP Id: rs370347920
• ExAC: 4:6304153 C / T
• gnomAD v2: 4-6304153-C-T
• gnomAD v3: 4-6302426-C-T
• gnomAD v4: 4-6302426-C-T
• COSMIC: COSM3604882
• MyVariant Identifiers: chr4:g.6304153C>T (hg19) ; chr4:g.6302426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302426C>T , CM000666.2:g.6302426C>T	GRCh38
NC_000004.11:g.6304153C>T , CM000666.1:g.6304153C>T	GRCh37
NC_000004.10:g.6355054C>T	NCBI36
NG_011700.1:g.37577C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2667C>T	ENSP00000507852.1:p.Phe889=
ENST00000683395.1:c.2608C>T
ENST00000684087.1:c.2631C>T	ENSP00000506978.1:p.Phe877=
ENST00000506362.2:c.2382C>T	ENSP00000424103.2:p.Phe794=
ENST00000673991.1:c.2667C>T	ENSP00000501033.1:p.Phe889=
ENST00000226760.5:c.2631C>T MANE Select	ENSP00000226760.1:p.Phe877=
ENST00000503569.5:c.2631C>T	ENSP00000423337.1:p.Phe877=
ENST00000507765.1:n.2816C>T
NM_001145853.1:c.2631C>T	NP_001139325.1:p.Phe877=
NM_006005.3:c.2631C>T MANE Select	NP_005996.2:p.Phe877=
XM_017008586.1:c.2640C>T	XP_016864075.1:p.Phe880=