Canonical Allele Identifier: CA14801179
Gene: BMP7 HGNC NCBI

Linked Data

dbSNP Id: rs6127983
gnomAD v2: 20-55824475-T-C
gnomAD v3: 20-57249419-T-C
gnomAD v4: 20-57249419-T-C
MyVariant Identifiers: chr20:g.55824475T>C (hg19) chr20:g.57249419T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57249419T>C , CM000682.2:g.57249419T>C GRCh38
NC_000020.10:g.55824475T>C , CM000682.1:g.55824475T>C GRCh37
NC_000020.9:g.55257882T>C NCBI36
NG_032771.1:g.22233A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395863.8:c.418+16286A>G MANE Select ENSP00000379204.3:n.418+16286A>G
ENST00000395863.7:c.418+16286A>G ENSP00000379204.3:n.418+16286A>G
ENST00000395864.7:c.418+16286A>G ENSP00000379205.3:n.418+16286A>G
ENST00000433911.1:c.74+16286A>G
ENST00000450594.6:c.418+16286A>G ENSP00000398687.2:n.418+16286A>G
NM_001719.2:c.418+16286A>G NP_001710.1:n.418+16286A>G
NM_001719.3:c.418+16286A>G MANE Select NP_001710.1:n.418+16286A>G
Search 100 bp 5'
Search 100 bp 3'