Canonical Allele Identifier: CA341808099

Gene: VTCN1

Linked Data

• gnomAD v4: 1-117147690-G-C
• MyVariant Identifiers: chr1:g.117690312G>C (hg19) ; chr1:g.117147690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147690G>C , CM000663.2:g.117147690G>C	GRCh38
NC_000001.10:g.117690312G>C , CM000663.1:g.117690312G>C	GRCh37
NC_000001.9:g.117491835G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.817C>G MANE Select	ENSP00000358470.3:p.Leu273Val
ENST00000328189.7:c.469C>G	ENSP00000328168.3:p.Leu157Val
ENST00000359008.8:c.826C>G	ENSP00000351899.4:p.Leu276Val
ENST00000369458.7:c.817C>G	ENSP00000358470.3:p.Leu273Val
ENST00000539893.5:c.532C>G	ENSP00000444724.1:p.Leu178Val
NM_001253849.1:c.532C>G	NP_001240778.1:p.Leu178Val
NM_001253850.1:c.469C>G	NP_001240779.1:p.Leu157Val
NM_024626.3:c.817C>G	NP_078902.2:p.Leu273Val
NR_045603.1:n.1012C>G
NR_045604.1:n.716C>G
XM_011542143.1:c.868C>G	XP_011540445.1:p.Leu290Val
XM_011542144.1:c.871C>G	XP_011540446.1:p.Leu291Val
XM_011542145.1:c.832C>G	XP_011540447.1:p.Leu278Val
XM_011542143.2:c.967C>G	XP_011540445.2:p.Leu323Val
XM_017002335.2:c.832C>G	XP_016857824.1:p.Leu278Val
NM_024626.4:c.817C>G MANE Select	NP_078902.2:p.Leu273Val
NR_045603.2:n.979C>G
NR_045604.2:n.683C>G
NM_001253849.2:c.532C>G	NP_001240778.1:p.Leu178Val
NM_001253850.2:c.469C>G	NP_001240779.1:p.Leu157Val