Canonical Allele Identifier: CA438368628

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2119546
• ClinVar RCV Id: RCV003033149
• gnomAD v4: 4-6301398-C-T
• MyVariant Identifiers: chr4:g.6303125C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301398C>T , CM000666.2:g.6301398C>T	GRCh38
NC_000004.11:g.6303125C>T , CM000666.1:g.6303125C>T	GRCh37
NC_000004.10:g.6354026C>T	NCBI36
NG_011700.1:g.36549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1639C>T	ENSP00000507852.1:p.Leu547=
ENST00000683395.1:c.1580C>T
ENST00000684087.1:c.1603C>T	ENSP00000506978.1:p.Leu535=
ENST00000506362.2:c.1354C>T	ENSP00000424103.2:p.Leu452=
ENST00000673642.1:c.1262C>T	ENSP00000501242.1:p.Pro421Leu
ENST00000673991.1:c.1639C>T	ENSP00000501033.1:p.Leu547=
ENST00000226760.5:c.1603C>T MANE Select	ENSP00000226760.1:p.Leu535=
ENST00000503569.5:c.1603C>T	ENSP00000423337.1:p.Leu535=
ENST00000507765.1:n.1788C>T
NM_001145853.1:c.1603C>T	NP_001139325.1:p.Leu535=
NM_006005.3:c.1603C>T MANE Select	NP_005996.2:p.Leu535=
XM_017008586.1:c.1612C>T	XP_016864075.1:p.Leu538=