Canonical Allele Identifier: CA29758391

Gene: VTCN1

Linked Data

• dbSNP Id: rs983464217
• gnomAD v2: 1-117690227-A-G
• gnomAD v3: 1-117147605-A-G
• gnomAD v4: 1-117147605-A-G
• MyVariant Identifiers: chr1:g.117690227A>G (hg19) ; chr1:g.117147605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.117147605A>G , CM000663.2:g.117147605A>G	GRCh38
NC_000001.10:g.117690227A>G , CM000663.1:g.117690227A>G	GRCh37
NC_000001.9:g.117491750A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369458.8:c.*45+8T>C MANE Select	ENSP00000358470.3:n.*45+8T>C
ENST00000328189.7:c.*45+8T>C	ENSP00000328168.3:n.*45+8T>C
ENST00000359008.8:c.*45+8T>C	ENSP00000351899.4:n.*45+8T>C
ENST00000369458.7:c.*45+8T>C	ENSP00000358470.3:n.*45+8T>C
ENST00000539893.5:c.*45+8T>C	ENSP00000444724.1:n.*45+8T>C
NM_001253849.1:c.*45+8T>C	NP_001240778.1:n.*45+8T>C
NM_001253850.1:c.*45+8T>C	NP_001240779.1:n.*45+8T>C
NM_024626.3:c.*45+8T>C	NP_078902.2:n.*45+8T>C
NR_045603.1:n.1089+8T>C
NR_045604.1:n.793+8T>C
XM_011542143.1:c.*45+8T>C	XP_011540445.1:n.*45+8T>C
XM_011542144.1:c.*45+8T>C	XP_011540446.1:n.*45+8T>C
XM_011542145.1:c.*45+8T>C	XP_011540447.1:n.*45+8T>C
XM_011542143.2:c.*45+8T>C	XP_011540445.2:n.*45+8T>C
XM_017002335.2:c.*45+8T>C	XP_016857824.1:n.*45+8T>C
NM_024626.4:c.*45+8T>C MANE Select	NP_078902.2:n.*45+8T>C
NR_045603.2:n.1056+8T>C
NR_045604.2:n.760+8T>C
NM_001253849.2:c.*45+8T>C	NP_001240778.1:n.*45+8T>C
NM_001253850.2:c.*45+8T>C	NP_001240779.1:n.*45+8T>C