Canonical Allele Identifier: CA2839693

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1648149
• ClinVar RCV Id: RCV002141041
• dbSNP Id: rs373431795
• ExAC: 4:6303874 C / T
• gnomAD v2: 4-6303874-C-T
• gnomAD v3: 4-6302147-C-T
• gnomAD v4: 4-6302147-C-T
• MyVariant Identifiers: chr4:g.6303874C>T (hg19) ; chr4:g.6302147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302147C>T , CM000666.2:g.6302147C>T	GRCh38
NC_000004.11:g.6303874C>T , CM000666.1:g.6303874C>T	GRCh37
NC_000004.10:g.6354775C>T	NCBI36
NG_011700.1:g.37298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2388C>T	ENSP00000507852.1:p.Ser796=
ENST00000683395.1:c.2329C>T
ENST00000684087.1:c.2352C>T	ENSP00000506978.1:p.Ser784=
ENST00000506362.2:c.2103C>T	ENSP00000424103.2:p.Ser701=
ENST00000673642.1:c.2011C>T	ENSP00000501242.1:n.2011C>T
ENST00000673991.1:c.2388C>T	ENSP00000501033.1:p.Ser796=
ENST00000226760.5:c.2352C>T MANE Select	ENSP00000226760.1:p.Ser784=
ENST00000503569.5:c.2352C>T	ENSP00000423337.1:p.Ser784=
ENST00000507765.1:n.2537C>T
NM_001145853.1:c.2352C>T	NP_001139325.1:p.Ser784=
NM_006005.3:c.2352C>T MANE Select	NP_005996.2:p.Ser784=
XM_017008586.1:c.2361C>T	XP_016864075.1:p.Ser787=