Canonical Allele Identifier: CA341808005

Gene: VTCN1

Linked Data

• dbSNP Id: rs1651582945
• gnomAD v4: 1-117147662-T-C
• MyVariant Identifiers: chr1:g.117690284T>C (hg19) ; chr1:g.117147662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147662T>C , CM000663.2:g.117147662T>C	GRCh38
NC_000001.10:g.117690284T>C , CM000663.1:g.117690284T>C	GRCh37
NC_000001.9:g.117491807T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369458.8:c.845A>G MANE Select	ENSP00000358470.3:p.Lys282Arg
ENST00000328189.7:c.497A>G	ENSP00000328168.3:p.Lys166Arg
ENST00000359008.8:c.854A>G	ENSP00000351899.4:p.Lys285Arg
ENST00000369458.7:c.845A>G	ENSP00000358470.3:p.Lys282Arg
ENST00000539893.5:c.560A>G	ENSP00000444724.1:p.Lys187Arg
NM_001253849.1:c.560A>G	NP_001240778.1:p.Lys187Arg
NM_001253850.1:c.497A>G	NP_001240779.1:p.Lys166Arg
NM_024626.3:c.845A>G	NP_078902.2:p.Lys282Arg
NR_045603.1:n.1040A>G
NR_045604.1:n.744A>G
XM_011542143.1:c.896A>G	XP_011540445.1:p.Lys299Arg
XM_011542144.1:c.899A>G	XP_011540446.1:p.Lys300Arg
XM_011542145.1:c.860A>G	XP_011540447.1:p.Lys287Arg
XM_011542143.2:c.995A>G	XP_011540445.2:p.Lys332Arg
XM_017002335.2:c.860A>G	XP_016857824.1:p.Lys287Arg
NM_024626.4:c.845A>G MANE Select	NP_078902.2:p.Lys282Arg
NR_045603.2:n.1007A>G
NR_045604.2:n.711A>G
NM_001253849.2:c.560A>G	NP_001240778.1:p.Lys187Arg
NM_001253850.2:c.497A>G	NP_001240779.1:p.Lys166Arg