Canonical Allele Identifier: CA2839535

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1071979
• ClinVar RCV Id: RCV001384572
• dbSNP Id: rs71530910
• ExAC: 4:6303407 C / T
• gnomAD v2: 4-6303407-C-T
• gnomAD v3: 4-6301680-C-T
• gnomAD v4: 4-6301680-C-T
• MyVariant Identifiers: chr4:g.6303407C>T (hg19) ; chr4:g.6301680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301680C>T , CM000666.2:g.6301680C>T	GRCh38
NC_000004.11:g.6303407C>T , CM000666.1:g.6303407C>T	GRCh37
NC_000004.10:g.6354308C>T	NCBI36
NG_011700.1:g.36831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1921C>T	ENSP00000507852.1:p.Arg641Trp
ENST00000683395.1:c.1862C>T
ENST00000684087.1:c.1885C>T	ENSP00000506978.1:p.Arg629Trp
ENST00000506362.2:c.1636C>T	ENSP00000424103.2:p.Arg546Trp
ENST00000673642.1:c.1544C>T	ENSP00000501242.1:n.1544C>T
ENST00000673991.1:c.1921C>T	ENSP00000501033.1:p.Arg641Trp
ENST00000226760.5:c.1885C>T MANE Select	ENSP00000226760.1:p.Arg629Trp
ENST00000503569.5:c.1885C>T	ENSP00000423337.1:p.Arg629Trp
ENST00000507765.1:n.2070C>T
NM_001145853.1:c.1885C>T	NP_001139325.1:p.Arg629Trp
NM_006005.3:c.1885C>T MANE Select	NP_005996.2:p.Arg629Trp
XM_017008586.1:c.1894C>T	XP_016864075.1:p.Arg632Trp