Canonical Allele Identifier: CA14791312
Gene: BMP7 HGNC NCBI

Linked Data

dbSNP Id: rs8116259
gnomAD v2: 20-55826168-A-G
gnomAD v3: 20-57251112-A-G
gnomAD v4: 20-57251112-A-G
MyVariant Identifiers: chr20:g.55826168A>G (hg19) chr20:g.57251112A>G (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57251112A>G , CM000682.2:g.57251112A>G GRCh38
NC_000020.10:g.55826168A>G , CM000682.1:g.55826168A>G GRCh37
NC_000020.9:g.55259575A>G NCBI36
NG_032771.1:g.20540T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395863.8:c.418+14593T>C MANE Select ENSP00000379204.3:n.418+14593T>C
ENST00000395863.7:c.418+14593T>C ENSP00000379204.3:n.418+14593T>C
ENST00000395864.7:c.418+14593T>C ENSP00000379205.3:n.418+14593T>C
ENST00000433911.1:c.74+14593T>C
ENST00000450594.6:c.418+14593T>C ENSP00000398687.2:n.418+14593T>C
NM_001719.2:c.418+14593T>C NP_001710.1:n.418+14593T>C
NM_001719.3:c.418+14593T>C MANE Select NP_001710.1:n.418+14593T>C
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