Canonical Allele Identifier: CA389785231

Gene: BMP4

Linked Data

• ClinVar Variation Id: 2945457
• ClinVar RCV Id: RCV003801111
• dbSNP Id: rs1301153846
• gnomAD v2: 14-54418679-G-A
• gnomAD v3: 14-53951961-G-A
• gnomAD v4: 14-53951961-G-A
• MyVariant Identifiers: chr14:g.54418679G>A (hg19) ; chr14:g.53951961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951961G>A , CM000676.2:g.53951961G>A	GRCh38
NC_000014.8:g.54418679G>A , CM000676.1:g.54418679G>A	GRCh37
NC_000014.7:g.53488429G>A	NCBI36
NG_009215.1:g.9876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.262C>T MANE Select	ENSP00000245451.4:p.Arg88Trp
ENST00000245451.8:c.262C>T	ENSP00000245451.4:p.Arg88Trp
ENST00000417573.5:c.262C>T	ENSP00000394165.1:p.Arg88Trp
ENST00000558961.1:c.187C>T	ENSP00000453691.1:p.Arg63Trp
ENST00000558984.1:c.262C>T	ENSP00000454134.1:p.Arg88Trp
ENST00000559087.5:c.262C>T	ENSP00000453485.1:p.Arg88Trp
ENST00000559501.1:c.73C>T	ENSP00000453365.1:p.Arg25Trp
ENST00000559642.1:c.262C>T	ENSP00000453467.1:p.Arg88Trp
NM_001202.3:c.262C>T	NP_001193.2:p.Arg88Trp
NM_130850.2:c.262C>T	NP_570911.2:p.Arg88Trp
NM_130851.2:c.262C>T	NP_570912.2:p.Arg88Trp
XM_005268015.3:c.262C>T	XP_005268072.1:p.Arg88Trp
NM_001202.5:c.262C>T	NP_001193.2:p.Arg88Trp
NM_001347912.1:c.403C>T	NP_001334841.1:p.Arg135Trp
NM_001347913.1:c.73C>T	NP_001334842.1:p.Arg25Trp
NM_001347914.1:c.262C>T	NP_001334843.1:p.Arg88Trp
NM_001347915.1:c.73C>T	NP_001334844.1:p.Arg25Trp
NM_001347916.1:c.262C>T	NP_001334845.1:p.Arg88Trp
NM_001347917.1:c.73C>T	NP_001334846.1:p.Arg25Trp
NM_130850.4:c.262C>T	NP_570911.2:p.Arg88Trp
NM_130851.3:c.262C>T	NP_570912.2:p.Arg88Trp
NM_001202.6:c.262C>T MANE Select	NP_001193.2:p.Arg88Trp
NM_130850.5:c.262C>T	NP_570911.2:p.Arg88Trp
NM_001347913.2:c.73C>T	NP_001334842.1:p.Arg25Trp
NM_001347914.2:c.262C>T	NP_001334843.1:p.Arg88Trp
NM_001347915.2:c.73C>T	NP_001334844.1:p.Arg25Trp
NM_130851.4:c.262C>T	NP_570912.2:p.Arg88Trp