Canonical Allele Identifier: CA341808255

Gene: VTCN1

Linked Data

• gnomAD v4: 1-117147726-A-G
• MyVariant Identifiers: chr1:g.117690348A>G (hg19) ; chr1:g.117147726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147726A>G , CM000663.2:g.117147726A>G	GRCh38
NC_000001.10:g.117690348A>G , CM000663.1:g.117690348A>G	GRCh37
NC_000001.9:g.117491871A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.781T>C MANE Select	ENSP00000358470.3:p.Cys261Arg
ENST00000328189.7:c.433T>C	ENSP00000328168.3:p.Cys145Arg
ENST00000359008.8:c.790T>C	ENSP00000351899.4:p.Cys264Arg
ENST00000369458.7:c.781T>C	ENSP00000358470.3:p.Cys261Arg
ENST00000539893.5:c.496T>C	ENSP00000444724.1:p.Cys166Arg
NM_001253849.1:c.496T>C	NP_001240778.1:p.Cys166Arg
NM_001253850.1:c.433T>C	NP_001240779.1:p.Cys145Arg
NM_024626.3:c.781T>C	NP_078902.2:p.Cys261Arg
NR_045603.1:n.976T>C
NR_045604.1:n.680T>C
XM_011542143.1:c.832T>C	XP_011540445.1:p.Cys278Arg
XM_011542144.1:c.835T>C	XP_011540446.1:p.Cys279Arg
XM_011542145.1:c.796T>C	XP_011540447.1:p.Cys266Arg
XM_011542143.2:c.931T>C	XP_011540445.2:p.Cys311Arg
XM_017002335.2:c.796T>C	XP_016857824.1:p.Cys266Arg
NM_024626.4:c.781T>C MANE Select	NP_078902.2:p.Cys261Arg
NR_045603.2:n.943T>C
NR_045604.2:n.647T>C
NM_001253849.2:c.496T>C	NP_001240778.1:p.Cys166Arg
NM_001253850.2:c.433T>C	NP_001240779.1:p.Cys145Arg