Canonical Allele Identifier: CA261472678

Gene: BMP4

Linked Data

• dbSNP Id: rs917187711
• gnomAD v2: 14-54417430-C-T
• gnomAD v3: 14-53950712-C-T
• gnomAD v4: 14-53950712-C-T
• MyVariant Identifiers: chr14:g.54417430C>T (hg19) ; chr14:g.53950712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53950712C>T , CM000676.2:g.53950712C>T	GRCh38
NC_000014.8:g.54417430C>T , CM000676.1:g.54417430C>T	GRCh37
NC_000014.7:g.53487180C>T	NCBI36
NG_009215.1:g.11125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000245451.9:c.547G>A MANE Select	ENSP00000245451.4:p.Val183Ile
ENST00000245451.8:c.547G>A	ENSP00000245451.4:p.Val183Ile
ENST00000417573.5:c.547G>A	ENSP00000394165.1:p.Val183Ile
ENST00000558961.1:c.405G>A	ENSP00000453691.1:n.405G>A
ENST00000558984.1:c.547G>A	ENSP00000454134.1:p.Val183Ile
ENST00000559087.5:c.547G>A	ENSP00000453485.1:p.Val183Ile
ENST00000559501.1:c.358G>A	ENSP00000453365.1:p.Val120Ile
NM_001202.3:c.547G>A	NP_001193.2:p.Val183Ile
NM_130850.2:c.547G>A	NP_570911.2:p.Val183Ile
NM_130851.2:c.547G>A	NP_570912.2:p.Val183Ile
XM_005268015.3:c.547G>A	XP_005268072.1:p.Val183Ile
NM_001202.5:c.547G>A	NP_001193.2:p.Val183Ile
NM_001347912.1:c.688G>A	NP_001334841.1:p.Val230Ile
NM_001347913.1:c.358G>A	NP_001334842.1:p.Val120Ile
NM_001347914.1:c.547G>A	NP_001334843.1:p.Val183Ile
NM_001347915.1:c.358G>A	NP_001334844.1:p.Val120Ile
NM_001347916.1:c.547G>A	NP_001334845.1:p.Val183Ile
NM_001347917.1:c.358G>A	NP_001334846.1:p.Val120Ile
NM_130850.4:c.547G>A	NP_570911.2:p.Val183Ile
NM_130851.3:c.547G>A	NP_570912.2:p.Val183Ile
NM_001202.6:c.547G>A MANE Select	NP_001193.2:p.Val183Ile
NM_130850.5:c.547G>A	NP_570911.2:p.Val183Ile
NM_001347913.2:c.358G>A	NP_001334842.1:p.Val120Ile
NM_001347914.2:c.547G>A	NP_001334843.1:p.Val183Ile
NM_001347915.2:c.358G>A	NP_001334844.1:p.Val120Ile
NM_130851.4:c.547G>A	NP_570912.2:p.Val183Ile