Canonical Allele Identifier: CA2839705

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229641
• ClinVar RCV Id: RCV000218719
• dbSNP Id: rs369107336
• ExAC: 4:6303891 C / T
• gnomAD v2: 4-6303891-C-T
• gnomAD v3: 4-6302164-C-T
• gnomAD v4: 4-6302164-C-T
• COSMIC: COSM3303312
• MyVariant Identifiers: chr4:g.6303891C>T (hg19) ; chr4:g.6302164C>T (hg38)
• PubMed: PMID:25211237

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302164C>T , CM000666.2:g.6302164C>T	GRCh38
NC_000004.11:g.6303891C>T , CM000666.1:g.6303891C>T	GRCh37
NC_000004.10:g.6354792C>T	NCBI36
NG_011700.1:g.37315C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2405C>T	ENSP00000507852.1:p.Ser802Leu
ENST00000683395.1:c.2346C>T
ENST00000684087.1:c.2369C>T	ENSP00000506978.1:p.Ser790Leu
ENST00000506362.2:c.2120C>T	ENSP00000424103.2:p.Ser707Leu
ENST00000673991.1:c.2405C>T	ENSP00000501033.1:p.Ser802Leu
ENST00000226760.5:c.2369C>T MANE Select	ENSP00000226760.1:p.Ser790Leu
ENST00000503569.5:c.2369C>T	ENSP00000423337.1:p.Ser790Leu
ENST00000507765.1:n.2554C>T
NM_001145853.1:c.2369C>T	NP_001139325.1:p.Ser790Leu
NM_006005.3:c.2369C>T MANE Select	NP_005996.2:p.Ser790Leu
XM_017008586.1:c.2378C>T	XP_016864075.1:p.Ser793Leu