Canonical Allele Identifier: CA2838918

Gene: WFS1

Linked Data

• ClinVar Variation Id: 517585
• ClinVar RCV Id: RCV000614885 ; RCV001568880 ; RCV002509086 ; RCV002498986
• dbSNP Id: rs753964845
• ExAC: 4:6292940 C / T
• gnomAD v2: 4-6292940-C-T
• gnomAD v3: 4-6291213-C-T
• gnomAD v4: 4-6291213-C-T
• COSMIC: COSM4125472
• MyVariant Identifiers: chr4:g.6292940C>T (hg19) ; chr4:g.6291213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291213C>T , CM000666.2:g.6291213C>T	GRCh38
NC_000004.11:g.6292940C>T , CM000666.1:g.6292940C>T	GRCh37
NC_000004.10:g.6343841C>T	NCBI36
NG_011700.1:g.26364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.477C>T	ENSP00000507852.1:p.Asn159=
ENST00000683395.1:c.467C>T
ENST00000684087.1:c.477C>T	ENSP00000506978.1:p.Asn159=
ENST00000684700.1:c.477C>T	ENSP00000507806.1:p.Asn159=
ENST00000506362.2:c.228C>T	ENSP00000424103.2:p.Asn76=
ENST00000673642.1:c.276C>T	ENSP00000501242.1:p.Asn92=
ENST00000673991.1:c.477C>T	ENSP00000501033.1:p.Asn159=
ENST00000674051.1:c.351C>T	ENSP00000501083.1:p.Asn117=
ENST00000226760.5:c.477C>T MANE Select	ENSP00000226760.1:p.Asn159=
ENST00000503569.5:c.477C>T	ENSP00000423337.1:p.Asn159=
ENST00000506362.1:c.74C>T
ENST00000507765.1:n.662C>T
NM_001145853.1:c.477C>T	NP_001139325.1:p.Asn159=
NM_006005.3:c.477C>T MANE Select	NP_005996.2:p.Asn159=
XM_017008586.1:c.486C>T	XP_016864075.1:p.Asn162=