Canonical Allele Identifier: CA341808109

Gene: VTCN1

Linked Data

• dbSNP Id: rs1651584855
• gnomAD v3: 1-117147693-G-A
• gnomAD v4: 1-117147693-G-A
• MyVariant Identifiers: chr1:g.117690315G>A (hg19) ; chr1:g.117147693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147693G>A , CM000663.2:g.117147693G>A	GRCh38
NC_000001.10:g.117690315G>A , CM000663.1:g.117690315G>A	GRCh37
NC_000001.9:g.117491838G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.814C>T MANE Select	ENSP00000358470.3:p.Leu272Phe
ENST00000328189.7:c.466C>T	ENSP00000328168.3:p.Leu156Phe
ENST00000359008.8:c.823C>T	ENSP00000351899.4:p.Leu275Phe
ENST00000369458.7:c.814C>T	ENSP00000358470.3:p.Leu272Phe
ENST00000539893.5:c.529C>T	ENSP00000444724.1:p.Leu177Phe
NM_001253849.1:c.529C>T	NP_001240778.1:p.Leu177Phe
NM_001253850.1:c.466C>T	NP_001240779.1:p.Leu156Phe
NM_024626.3:c.814C>T	NP_078902.2:p.Leu272Phe
NR_045603.1:n.1009C>T
NR_045604.1:n.713C>T
XM_011542143.1:c.865C>T	XP_011540445.1:p.Leu289Phe
XM_011542144.1:c.868C>T	XP_011540446.1:p.Leu290Phe
XM_011542145.1:c.829C>T	XP_011540447.1:p.Leu277Phe
XM_011542143.2:c.964C>T	XP_011540445.2:p.Leu322Phe
XM_017002335.2:c.829C>T	XP_016857824.1:p.Leu277Phe
NM_024626.4:c.814C>T MANE Select	NP_078902.2:p.Leu272Phe
NR_045603.2:n.976C>T
NR_045604.2:n.680C>T
NM_001253849.2:c.529C>T	NP_001240778.1:p.Leu177Phe
NM_001253850.2:c.466C>T	NP_001240779.1:p.Leu156Phe