Canonical Allele Identifier: CA258061

Gene: BMP4

Linked Data

• ClinVar Variation Id: 17701
• ClinVar RCV Id: RCV000019275
• dbSNP Id: rs121912765
• ExAC: 14:54418663 T / C
• gnomAD v2: 14-54418663-T-C
• gnomAD v3: 14-53951945-T-C
• gnomAD v4: 14-53951945-T-C
• MyVariant Identifiers: chr14:g.54418663T>C (hg19) ; chr14:g.53951945T>C (hg38)
• PubMed: PMID:18252212

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951945T>C , CM000676.2:g.53951945T>C	GRCh38
NC_000014.8:g.54418663T>C , CM000676.1:g.54418663T>C	GRCh37
NC_000014.7:g.53488413T>C	NCBI36
NG_009215.1:g.9892A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.278A>G MANE Select	ENSP00000245451.4:p.Glu93Gly
ENST00000245451.8:c.278A>G	ENSP00000245451.4:p.Glu93Gly
ENST00000417573.5:c.278A>G	ENSP00000394165.1:p.Glu93Gly
ENST00000558961.1:c.203A>G	ENSP00000453691.1:p.Glu68Gly
ENST00000558984.1:c.278A>G	ENSP00000454134.1:p.Glu93Gly
ENST00000559087.5:c.278A>G	ENSP00000453485.1:p.Glu93Gly
ENST00000559501.1:c.89A>G	ENSP00000453365.1:p.Glu30Gly
ENST00000559642.1:c.278A>G	ENSP00000453467.1:p.Glu93Gly
NM_001202.3:c.278A>G	NP_001193.2:p.Glu93Gly
NM_130850.2:c.278A>G	NP_570911.2:p.Glu93Gly
NM_130851.2:c.278A>G	NP_570912.2:p.Glu93Gly
XM_005268015.3:c.278A>G	XP_005268072.1:p.Glu93Gly
NM_001202.5:c.278A>G	NP_001193.2:p.Glu93Gly
NM_001347912.1:c.419A>G	NP_001334841.1:p.Glu140Gly
NM_001347913.1:c.89A>G	NP_001334842.1:p.Glu30Gly
NM_001347914.1:c.278A>G	NP_001334843.1:p.Glu93Gly
NM_001347915.1:c.89A>G	NP_001334844.1:p.Glu30Gly
NM_001347916.1:c.278A>G	NP_001334845.1:p.Glu93Gly
NM_001347917.1:c.89A>G	NP_001334846.1:p.Glu30Gly
NM_130850.4:c.278A>G	NP_570911.2:p.Glu93Gly
NM_130851.3:c.278A>G	NP_570912.2:p.Glu93Gly
NM_001202.6:c.278A>G MANE Select	NP_001193.2:p.Glu93Gly
NM_130850.5:c.278A>G	NP_570911.2:p.Glu93Gly
NM_001347913.2:c.89A>G	NP_001334842.1:p.Glu30Gly
NM_001347914.2:c.278A>G	NP_001334843.1:p.Glu93Gly
NM_001347915.2:c.89A>G	NP_001334844.1:p.Glu30Gly
NM_130851.4:c.278A>G	NP_570912.2:p.Glu93Gly