Canonical Allele Identifier: CA341808114

Gene: VTCN1

Linked Data

• dbSNP Id: rs1651585036
• gnomAD v4: 1-117147695-G-A
• MyVariant Identifiers: chr1:g.117690317G>A (hg19) ; chr1:g.117147695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147695G>A , CM000663.2:g.117147695G>A	GRCh38
NC_000001.10:g.117690317G>A , CM000663.1:g.117690317G>A	GRCh37
NC_000001.9:g.117491840G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369458.8:c.812C>T MANE Select	ENSP00000358470.3:p.Ala271Val
ENST00000328189.7:c.464C>T	ENSP00000328168.3:p.Ala155Val
ENST00000359008.8:c.821C>T	ENSP00000351899.4:p.Ala274Val
ENST00000369458.7:c.812C>T	ENSP00000358470.3:p.Ala271Val
ENST00000539893.5:c.527C>T	ENSP00000444724.1:p.Ala176Val
NM_001253849.1:c.527C>T	NP_001240778.1:p.Ala176Val
NM_001253850.1:c.464C>T	NP_001240779.1:p.Ala155Val
NM_024626.3:c.812C>T	NP_078902.2:p.Ala271Val
NR_045603.1:n.1007C>T
NR_045604.1:n.711C>T
XM_011542143.1:c.863C>T	XP_011540445.1:p.Ala288Val
XM_011542144.1:c.866C>T	XP_011540446.1:p.Ala289Val
XM_011542145.1:c.827C>T	XP_011540447.1:p.Ala276Val
XM_011542143.2:c.962C>T	XP_011540445.2:p.Ala321Val
XM_017002335.2:c.827C>T	XP_016857824.1:p.Ala276Val
NM_024626.4:c.812C>T MANE Select	NP_078902.2:p.Ala271Val
NR_045603.2:n.974C>T
NR_045604.2:n.678C>T
NM_001253849.2:c.527C>T	NP_001240778.1:p.Ala176Val
NM_001253850.2:c.464C>T	NP_001240779.1:p.Ala155Val