Canonical Allele Identifier: CA321835

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215353
• ClinVar RCV Id: RCV000197385 ; RCV000276573 ; RCV000364218 ; RCV000872702 ; RCV002509046
• dbSNP Id: rs151277039
• ExAC: 4:6292973 C / G
• gnomAD v2: 4-6292973-C-G
• gnomAD v3: 4-6291246-C-G
• gnomAD v4: 4-6291246-C-G
• MyVariant Identifiers: chr4:g.6292973C>G (hg19) ; chr4:g.6291246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291246C>G , CM000666.2:g.6291246C>G	GRCh38
NC_000004.11:g.6292973C>G , CM000666.1:g.6292973C>G	GRCh37
NC_000004.10:g.6343874C>G	NCBI36
NG_011700.1:g.26397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.510C>G	ENSP00000507852.1:p.Thr170=
ENST00000683395.1:c.500C>G
ENST00000684087.1:c.510C>G	ENSP00000506978.1:p.Thr170=
ENST00000684700.1:c.510C>G	ENSP00000507806.1:p.Thr170=
ENST00000506362.2:c.261C>G	ENSP00000424103.2:p.Thr87=
ENST00000673642.1:c.309C>G	ENSP00000501242.1:p.Thr103=
ENST00000673991.1:c.510C>G	ENSP00000501033.1:p.Thr170=
ENST00000674051.1:c.384C>G	ENSP00000501083.1:p.Thr128=
ENST00000226760.5:c.510C>G MANE Select	ENSP00000226760.1:p.Thr170=
ENST00000503569.5:c.510C>G	ENSP00000423337.1:p.Thr170=
ENST00000506362.1:c.107C>G
ENST00000507765.1:n.695C>G
NM_001145853.1:c.510C>G	NP_001139325.1:p.Thr170=
NM_006005.3:c.510C>G MANE Select	NP_005996.2:p.Thr170=
XM_017008586.1:c.519C>G	XP_016864075.1:p.Thr173=