Canonical Allele Identifier: CA7191789
Gene: BMP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3134542
ClinVar RCV Id: RCV004431895
dbSNP Id: rs549252141

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53951885C>T , CM000676.2:g.53951885C>T GRCh38
NC_000014.8:g.54418603C>T , CM000676.1:g.54418603C>T GRCh37
NC_000014.7:g.53488353C>T NCBI36
NG_009215.1:g.9952G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245451.9:c.338G>A MANE Select ENSP00000245451.4:p.Arg113Gln
ENST00000245451.8:c.338G>A ENSP00000245451.4:p.Arg113Gln
ENST00000417573.5:c.338G>A ENSP00000394165.1:p.Arg113Gln
ENST00000558961.1:c.263G>A ENSP00000453691.1:p.Arg88Gln
ENST00000558984.1:c.338G>A ENSP00000454134.1:p.Arg113Gln
ENST00000559087.5:c.338G>A ENSP00000453485.1:p.Arg113Gln
ENST00000559501.1:c.149G>A ENSP00000453365.1:p.Arg50Gln
NM_001202.3:c.338G>A NP_001193.2:p.Arg113Gln
NM_130850.2:c.338G>A NP_570911.2:p.Arg113Gln
NM_130851.2:c.338G>A NP_570912.2:p.Arg113Gln
XM_005268015.3:c.338G>A XP_005268072.1:p.Arg113Gln
NM_001202.5:c.338G>A NP_001193.2:p.Arg113Gln
NM_001347912.1:c.479G>A NP_001334841.1:p.Arg160Gln
NM_001347913.1:c.149G>A NP_001334842.1:p.Arg50Gln
NM_001347914.1:c.338G>A NP_001334843.1:p.Arg113Gln
NM_001347915.1:c.149G>A NP_001334844.1:p.Arg50Gln
NM_001347916.1:c.338G>A NP_001334845.1:p.Arg113Gln
NM_001347917.1:c.149G>A NP_001334846.1:p.Arg50Gln
NM_130850.4:c.338G>A NP_570911.2:p.Arg113Gln
NM_130851.3:c.338G>A NP_570912.2:p.Arg113Gln
NM_001202.6:c.338G>A MANE Select NP_001193.2:p.Arg113Gln
NM_130850.5:c.338G>A NP_570911.2:p.Arg113Gln
NM_001347913.2:c.149G>A NP_001334842.1:p.Arg50Gln
NM_001347914.2:c.338G>A NP_001334843.1:p.Arg113Gln
NM_001347915.2:c.149G>A NP_001334844.1:p.Arg50Gln
NM_130851.4:c.338G>A NP_570912.2:p.Arg113Gln