Canonical Allele Identifier: CA295582

Gene: WFS1

Linked Data

• ClinVar Variation Id: 166608
• ClinVar RCV Id: RCV000152697 ; RCV002056020 ; RCV003148661
• dbSNP Id: rs369107336
• ExAC: 4:6303891 C / G
• gnomAD v2: 4-6303891-C-G
• gnomAD v3: 4-6302164-C-G
• gnomAD v4: 4-6302164-C-G
• MyVariant Identifiers: chr4:g.6303891C>G (hg19) ; chr4:g.6302164C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2405C>G	ENSP00000507852.1:p.Ser802Trp
ENST00000683395.1:c.2346C>G
ENST00000684087.1:c.2369C>G	ENSP00000506978.1:p.Ser790Trp
ENST00000506362.2:c.2120C>G	ENSP00000424103.2:p.Ser707Trp
ENST00000673991.1:c.2405C>G	ENSP00000501033.1:p.Ser802Trp
ENST00000226760.5:c.2369C>G MANE Select	ENSP00000226760.1:p.Ser790Trp
ENST00000503569.5:c.2369C>G	ENSP00000423337.1:p.Ser790Trp
ENST00000507765.1:n.2554C>G
NM_001145853.1:c.2369C>G	NP_001139325.1:p.Ser790Trp
NM_006005.3:c.2369C>G MANE Select	NP_005996.2:p.Ser790Trp
XM_017008586.1:c.2378C>G	XP_016864075.1:p.Ser793Trp