Canonical Allele Identifier: CA2839377

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1597510
• ClinVar RCV Id: RCV002127216 ; RCV002500005
• dbSNP Id: rs778206175
• ExAC: 4:6303016 C / T
• gnomAD v2: 4-6303016-C-T
• gnomAD v3: 4-6301289-C-T
• gnomAD v4: 4-6301289-C-T
• MyVariant Identifiers: chr4:g.6303016C>T (hg19) ; chr4:g.6301289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301289C>T , CM000666.2:g.6301289C>T	GRCh38
NC_000004.11:g.6303016C>T , CM000666.1:g.6303016C>T	GRCh37
NC_000004.10:g.6353917C>T	NCBI36
NG_011700.1:g.36440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1530C>T	ENSP00000507852.1:p.Val510=
ENST00000683395.1:c.1471C>T
ENST00000684087.1:c.1494C>T	ENSP00000506978.1:p.Val498=
ENST00000506362.2:c.1245C>T	ENSP00000424103.2:p.Val415=
ENST00000673642.1:c.1153C>T	ENSP00000501242.1:p.Pro385Ser
ENST00000673991.1:c.1530C>T	ENSP00000501033.1:p.Val510=
ENST00000226760.5:c.1494C>T MANE Select	ENSP00000226760.1:p.Val498=
ENST00000503569.5:c.1494C>T	ENSP00000423337.1:p.Val498=
ENST00000507765.1:n.1679C>T
NM_001145853.1:c.1494C>T	NP_001139325.1:p.Val498=
NM_006005.3:c.1494C>T MANE Select	NP_005996.2:p.Val498=
XM_017008586.1:c.1503C>T	XP_016864075.1:p.Val501=