Canonical Allele Identifier: CA2838805

Gene: WFS1

Linked Data

• ClinVar Variation Id: 349305
• ClinVar RCV Id: RCV002509060 ; RCV003546544
• dbSNP Id: rs754346893
• ExAC: 4:6279314 C / T
• gnomAD v2: 4-6279314-C-T
• gnomAD v3: 4-6277587-C-T
• gnomAD v4: 4-6277587-C-T
• MyVariant Identifiers: chr4:g.6279314C>T (hg19) ; chr4:g.6277587C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277587C>T , CM000666.2:g.6277587C>T	GRCh38
NC_000004.11:g.6279314C>T , CM000666.1:g.6279314C>T	GRCh37
NC_000004.10:g.6330215C>T	NCBI36
NG_011700.1:g.12738C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506588.6:n.302C>T
ENST00000682059.1:c.132C>T	ENSP00000507988.1:p.Pro44=
ENST00000682275.1:c.132C>T	ENSP00000507852.1:p.Pro44=
ENST00000683395.1:c.122C>T
ENST00000684054.1:c.132C>T	ENSP00000507120.1:p.Pro44=
ENST00000684087.1:c.132C>T	ENSP00000506978.1:p.Pro44=
ENST00000684700.1:c.132C>T	ENSP00000507806.1:p.Pro44=
ENST00000506362.2:c.-18+7573C>T	ENSP00000424103.2:n.-18+7573C>T
ENST00000673991.1:c.132C>T	ENSP00000501033.1:p.Pro44=
ENST00000674051.1:c.67-61C>T	ENSP00000501083.1:n.67-61C>T
ENST00000226760.5:c.132C>T MANE Select	ENSP00000226760.1:p.Pro44=
ENST00000503569.5:c.132C>T	ENSP00000423337.1:p.Pro44=
ENST00000506588.5:n.302C>T
NM_001145853.1:c.132C>T	NP_001139325.1:p.Pro44=
NM_006005.3:c.132C>T MANE Select	NP_005996.2:p.Pro44=
XM_017008586.1:c.141C>T	XP_016864075.1:p.Pro47=