Canonical Allele Identifier: CA971268
Gene: VCAM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.100723190A>G
GRCh37 chr1:g.101188746A>G
Revel Score:
ENST00000370119 0.270
ENST00000347652 0.270
ENST00000294728 (MANE Select) 0.270
ENST00000370115 0.270
gnomAD v2:
1:101188746 A / G
gnomAD v3:
1:100723190 A / G
gnomAD v4:
chr1-100723190-A-G
Joint Max Group AF 0.000005 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV004098713
ClinVar Variation:
2238183
dbSNP:
139874936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100723190A>G , CM000663.2:g.100723190A>G GRCh38
NC_000001.10:g.101188746A>G , CM000663.1:g.101188746A>G GRCh37
NC_000001.9:g.100961334A>G NCBI36
NG_023034.2:g.8450A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000294728.7:c.511A>G MANE Select ENSP00000294728.2:p.Lys171Glu
ENST00000650339.1:c.*60A>G ENSP00000497582.1:n.*60A>G
ENST00000294728.6:c.511A>G ENSP00000294728.2:p.Lys171Glu
ENST00000347652.6:c.511A>G ENSP00000304611.2:p.Lys171Glu
ENST00000370115.1:c.511A>G ENSP00000359133.1:p.Lys171Glu
ENST00000370119.8:c.325A>G ENSP00000359137.3:p.Lys109Glu
NM_001078.3:c.511A>G NP_001069.1:p.Lys171Glu
NM_001199834.1:c.325A>G NP_001186763.1:p.Lys109Glu
NM_080682.2:c.511A>G NP_542413.1:p.Lys171Glu
NM_001078.4:c.511A>G MANE Select NP_001069.1:p.Lys171Glu
NM_001199834.2:c.325A>G NP_001186763.1:p.Lys109Glu
NM_080682.3:c.511A>G NP_542413.1:p.Lys171Glu
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