Canonical Allele Identifier: CA389784994

Gene: BMP4

Linked Data

• ClinVar Variation Id: 1311175
• ClinVar RCV Id: RCV001758684
• dbSNP Id: rs2140237414
• gnomAD v4: 14-53951852-C-A
• MyVariant Identifiers: chr14:g.54418570C>A (hg19) ; chr14:g.53951852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951852C>A , CM000676.2:g.53951852C>A	GRCh38
NC_000014.8:g.54418570C>A , CM000676.1:g.54418570C>A	GRCh37
NC_000014.7:g.53488320C>A	NCBI36
NG_009215.1:g.9985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.370+1G>T MANE Select	ENSP00000245451.4:n.370+1G>T
ENST00000245451.8:c.370+1G>T	ENSP00000245451.4:n.370+1G>T
ENST00000417573.5:c.370+1G>T	ENSP00000394165.1:n.370+1G>T
ENST00000558961.1:c.295+1G>T	ENSP00000453691.1:n.295+1G>T
ENST00000558984.1:c.370+1G>T	ENSP00000454134.1:n.370+1G>T
ENST00000559087.5:c.370+1G>T	ENSP00000453485.1:n.370+1G>T
ENST00000559501.1:c.181+1G>T	ENSP00000453365.1:n.181+1G>T
ENST00000609748.1:c.29G>T	ENSP00000476690.1:p.Gly10Val
NM_001202.3:c.370+1G>T	NP_001193.2:n.370+1G>T
NM_130850.2:c.370+1G>T	NP_570911.2:n.370+1G>T
NM_130851.2:c.370+1G>T	NP_570912.2:n.370+1G>T
XM_005268015.3:c.370+1G>T	XP_005268072.1:n.370+1G>T
NM_001202.5:c.370+1G>T	NP_001193.2:n.370+1G>T
NM_001347912.1:c.511+1G>T	NP_001334841.1:n.511+1G>T
NM_001347913.1:c.181+1G>T	NP_001334842.1:n.181+1G>T
NM_001347914.1:c.370+1G>T	NP_001334843.1:n.370+1G>T
NM_001347915.1:c.181+1G>T	NP_001334844.1:n.181+1G>T
NM_001347916.1:c.370+1G>T	NP_001334845.1:n.370+1G>T
NM_001347917.1:c.181+1G>T	NP_001334846.1:n.181+1G>T
NM_130850.4:c.370+1G>T	NP_570911.2:n.370+1G>T
NM_130851.3:c.370+1G>T	NP_570912.2:n.370+1G>T
NM_001202.6:c.370+1G>T MANE Select	NP_001193.2:n.370+1G>T
NM_130850.5:c.370+1G>T	NP_570911.2:n.370+1G>T
NM_001347913.2:c.181+1G>T	NP_001334842.1:n.181+1G>T
NM_001347914.2:c.370+1G>T	NP_001334843.1:n.370+1G>T
NM_001347915.2:c.181+1G>T	NP_001334844.1:n.181+1G>T
NM_130851.4:c.370+1G>T	NP_570912.2:n.370+1G>T