Canonical Allele Identifier: CA2839536

Gene: WFS1

Linked Data

• ClinVar Variation Id: 724440
• ClinVar RCV Id: RCV000898352 ; RCV003128194
• dbSNP Id: rs773312242
• ExAC: 4:6303415 C / T
• gnomAD v2: 4-6303415-C-T
• gnomAD v3: 4-6301688-C-T
• gnomAD v4: 4-6301688-C-T
• MyVariant Identifiers: chr4:g.6303415C>T (hg19) ; chr4:g.6301688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301688C>T , CM000666.2:g.6301688C>T	GRCh38
NC_000004.11:g.6303415C>T , CM000666.1:g.6303415C>T	GRCh37
NC_000004.10:g.6354316C>T	NCBI36
NG_011700.1:g.36839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1929C>T	ENSP00000507852.1:p.Ser643=
ENST00000683395.1:c.1870C>T
ENST00000684087.1:c.1893C>T	ENSP00000506978.1:p.Ser631=
ENST00000506362.2:c.1644C>T	ENSP00000424103.2:p.Ser548=
ENST00000673642.1:c.1552C>T	ENSP00000501242.1:n.1552C>T
ENST00000673991.1:c.1929C>T	ENSP00000501033.1:p.Ser643=
ENST00000226760.5:c.1893C>T MANE Select	ENSP00000226760.1:p.Ser631=
ENST00000503569.5:c.1893C>T	ENSP00000423337.1:p.Ser631=
ENST00000507765.1:n.2078C>T
NM_001145853.1:c.1893C>T	NP_001139325.1:p.Ser631=
NM_006005.3:c.1893C>T MANE Select	NP_005996.2:p.Ser631=
XM_017008586.1:c.1902C>T	XP_016864075.1:p.Ser634=