Canonical Allele Identifier: CA2839648

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2730363
• ClinVar RCV Id: RCV003579676
• dbSNP Id: rs769107352
• ExAC: 4:6303740 C / T
• gnomAD v2: 4-6303740-C-T
• gnomAD v3: 4-6302013-C-T
• gnomAD v4: 4-6302013-C-T
• MyVariant Identifiers: chr4:g.6303740C>T (hg19) ; chr4:g.6302013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302013C>T , CM000666.2:g.6302013C>T	GRCh38
NC_000004.11:g.6303740C>T , CM000666.1:g.6303740C>T	GRCh37
NC_000004.10:g.6354641C>T	NCBI36
NG_011700.1:g.37164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2254C>T	ENSP00000507852.1:p.Pro752Ser
ENST00000683395.1:c.2195C>T
ENST00000684087.1:c.2218C>T	ENSP00000506978.1:p.Pro740Ser
ENST00000506362.2:c.1969C>T	ENSP00000424103.2:p.Pro657Ser
ENST00000673642.1:c.1877C>T	ENSP00000501242.1:n.1877C>T
ENST00000673991.1:c.2254C>T	ENSP00000501033.1:p.Pro752Ser
ENST00000226760.5:c.2218C>T MANE Select	ENSP00000226760.1:p.Pro740Ser
ENST00000503569.5:c.2218C>T	ENSP00000423337.1:p.Pro740Ser
ENST00000507765.1:n.2403C>T
NM_001145853.1:c.2218C>T	NP_001139325.1:p.Pro740Ser
NM_006005.3:c.2218C>T MANE Select	NP_005996.2:p.Pro740Ser
XM_017008586.1:c.2227C>T	XP_016864075.1:p.Pro743Ser