Canonical Allele Identifier: CA341808102

Gene: VTCN1

Linked Data

• gnomAD v4: 1-117147692-A-C
• MyVariant Identifiers: chr1:g.117690314A>C (hg19) ; chr1:g.117147692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147692A>C , CM000663.2:g.117147692A>C	GRCh38
NC_000001.10:g.117690314A>C , CM000663.1:g.117690314A>C	GRCh37
NC_000001.9:g.117491837A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.815T>G MANE Select	ENSP00000358470.3:p.Leu272Arg
ENST00000328189.7:c.467T>G	ENSP00000328168.3:p.Leu156Arg
ENST00000359008.8:c.824T>G	ENSP00000351899.4:p.Leu275Arg
ENST00000369458.7:c.815T>G	ENSP00000358470.3:p.Leu272Arg
ENST00000539893.5:c.530T>G	ENSP00000444724.1:p.Leu177Arg
NM_001253849.1:c.530T>G	NP_001240778.1:p.Leu177Arg
NM_001253850.1:c.467T>G	NP_001240779.1:p.Leu156Arg
NM_024626.3:c.815T>G	NP_078902.2:p.Leu272Arg
NR_045603.1:n.1010T>G
NR_045604.1:n.714T>G
XM_011542143.1:c.866T>G	XP_011540445.1:p.Leu289Arg
XM_011542144.1:c.869T>G	XP_011540446.1:p.Leu290Arg
XM_011542145.1:c.830T>G	XP_011540447.1:p.Leu277Arg
XM_011542143.2:c.965T>G	XP_011540445.2:p.Leu322Arg
XM_017002335.2:c.830T>G	XP_016857824.1:p.Leu277Arg
NM_024626.4:c.815T>G MANE Select	NP_078902.2:p.Leu272Arg
NR_045603.2:n.977T>G
NR_045604.2:n.681T>G
NM_001253849.2:c.530T>G	NP_001240778.1:p.Leu177Arg
NM_001253850.2:c.467T>G	NP_001240779.1:p.Leu156Arg