Canonical Allele Identifier: CA1030600
Gene: VTCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.117210906G>A
GRCh37 chr1:g.117753528G>A
gnomAD v2:
1:117753528 G / A
gnomAD v3:
1:117210906 G / A
gnomAD v4:
chr1-117210906-G-A
Joint Max Group AF 0.2692569 (EAS)
Genomes Max Group AF 0.26466633 (EAS)
Exomes Max Group AF 0.26857661 (EAS)
dbSNP:
3738414
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.117210906G>A , CM000663.2:g.117210906G>A GRCh38
NC_000001.10:g.117753528G>A , CM000663.1:g.117753528G>A GRCh37
NC_000001.9:g.117555051G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369458.8:c.-51C>T MANE Select ENSP00000358470.3:n.-51C>T
ENST00000328189.7:c.-51C>T ENSP00000328168.3:n.-51C>T
ENST00000369458.7:c.-51C>T ENSP00000358470.3:n.-51C>T
ENST00000430871.3:c.-51C>T ENSP00000484316.1:n.-51C>T
ENST00000463461.5:n.22C>T
NM_001253850.1:c.-51C>T NP_001240779.1:n.-51C>T
NM_024626.3:c.-51C>T NP_078902.2:n.-51C>T
NR_045603.1:n.55C>T
NR_045604.1:n.55C>T
XM_011542144.1:c.87-40735C>T XP_011540446.1:n.87-40735C>T
XM_017002335.2:c.-314C>T XP_016857824.1:n.-314C>T
NM_024626.4:c.-51C>T MANE Select NP_078902.2:n.-51C>T
NR_045603.2:n.22C>T
NR_045604.2:n.22C>T
NM_001253850.2:c.-51C>T NP_001240779.1:n.-51C>T
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