Canonical Allele Identifier: CA971456
Gene: VCAM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.100731231G>A
GRCh37 chr1:g.101196787G>A
Revel Score:
ENST00000370119 0.065
ENST00000347652 0.065
ENST00000294728 (MANE Select) 0.065
gnomAD v2:
1:101196787 G / A
gnomAD v3:
1:100731231 G / A
gnomAD v4:
chr1-100731231-G-A
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
dbSNP:
3783613
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100731231G>A , CM000663.2:g.100731231G>A GRCh38
NC_000001.10:g.101196787G>A , CM000663.1:g.101196787G>A GRCh37
NC_000001.9:g.100969375G>A NCBI36
NG_023034.2:g.16491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294728.7:c.1238G>A MANE Select ENSP00000294728.2:p.Gly413Asp
ENST00000650339.1:c.*787G>A ENSP00000497582.1:n.*787G>A
ENST00000294728.6:c.1238G>A ENSP00000294728.2:p.Gly413Asp
ENST00000347652.6:c.962G>A ENSP00000304611.2:p.Gly321Asp
ENST00000370115.1:c.929-1187G>A ENSP00000359133.1:n.929-1187G>A
ENST00000370119.8:c.1052G>A ENSP00000359137.3:p.Gly351Asp
NM_001078.3:c.1238G>A NP_001069.1:p.Gly413Asp
NM_001199834.1:c.1052G>A NP_001186763.1:p.Gly351Asp
NM_080682.2:c.962G>A NP_542413.1:p.Gly321Asp
NM_001078.4:c.1238G>A MANE Select NP_001069.1:p.Gly413Asp
NM_001199834.2:c.1052G>A NP_001186763.1:p.Gly351Asp
NM_080682.3:c.962G>A NP_542413.1:p.Gly321Asp
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