Canonical Allele Identifier: CA1030297
Gene: VTCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.117147650G>A
GRCh37 chr1:g.117690272G>A
gnomAD v2:
1:117690272 G / A
gnomAD v3:
1:117147650 G / A
gnomAD v4:
chr1-117147650-G-A
Joint Max Group AF 0.91989539 (NFE)
Genomes Max Group AF 0.91559122 (NFE)
Exomes Max Group AF 0.9198338 (NFE)
dbSNP:
10754339
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.117147650G>A , CM000663.2:g.117147650G>A GRCh38
NC_000001.10:g.117690272G>A , CM000663.1:g.117690272G>A GRCh37
NC_000001.9:g.117491795G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369458.8:c.*8C>T MANE Select ENSP00000358470.3:n.*8C>T
ENST00000328189.7:c.*8C>T ENSP00000328168.3:n.*8C>T
ENST00000359008.8:c.*8C>T ENSP00000351899.4:n.*8C>T
ENST00000369458.7:c.*8C>T ENSP00000358470.3:n.*8C>T
ENST00000539893.5:c.*8C>T ENSP00000444724.1:n.*8C>T
NM_001253849.1:c.*8C>T NP_001240778.1:n.*8C>T
NM_001253850.1:c.*8C>T NP_001240779.1:n.*8C>T
NM_024626.3:c.*8C>T NP_078902.2:n.*8C>T
NR_045603.1:n.1052C>T
NR_045604.1:n.756C>T
XM_011542143.1:c.*8C>T XP_011540445.1:n.*8C>T
XM_011542144.1:c.*8C>T XP_011540446.1:n.*8C>T
XM_011542145.1:c.*8C>T XP_011540447.1:n.*8C>T
XM_011542143.2:c.*8C>T XP_011540445.2:n.*8C>T
XM_017002335.2:c.*8C>T XP_016857824.1:n.*8C>T
NM_024626.4:c.*8C>T MANE Select NP_078902.2:n.*8C>T
NR_045603.2:n.1019C>T
NR_045604.2:n.723C>T
NM_001253849.2:c.*8C>T NP_001240778.1:n.*8C>T
NM_001253850.2:c.*8C>T NP_001240779.1:n.*8C>T
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