Canonical Allele Identifier: CA7191839

Gene: BMP4

Linked Data

• ClinVar Variation Id: 2381876
• ClinVar RCV Id: RCV002674694
• dbSNP Id: rs759558138
• ExAC: 14:54418853 T / C
• gnomAD v2: 14-54418853-T-C
• gnomAD v3: 14-53952135-T-C
• gnomAD v4: 14-53952135-T-C
• MyVariant Identifiers: chr14:g.54418853T>C (hg19) ; chr14:g.53952135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53952135T>C , CM000676.2:g.53952135T>C	GRCh38
NC_000014.8:g.54418853T>C , CM000676.1:g.54418853T>C	GRCh37
NC_000014.7:g.53488603T>C	NCBI36
NG_009215.1:g.9702A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.88A>G MANE Select	ENSP00000245451.4:p.Thr30Ala
ENST00000245451.8:c.88A>G	ENSP00000245451.4:p.Thr30Ala
ENST00000417573.5:c.88A>G	ENSP00000394165.1:p.Thr30Ala
ENST00000558961.1:c.13A>G	ENSP00000453691.1:p.Thr5Ala
ENST00000558984.1:c.88A>G	ENSP00000454134.1:p.Thr30Ala
ENST00000559087.5:c.88A>G	ENSP00000453485.1:p.Thr30Ala
ENST00000559501.1:c.-102A>G	ENSP00000453365.1:n.-102A>G
ENST00000559642.1:c.88A>G	ENSP00000453467.1:p.Thr30Ala
NM_001202.3:c.88A>G	NP_001193.2:p.Thr30Ala
NM_130850.2:c.88A>G	NP_570911.2:p.Thr30Ala
NM_130851.2:c.88A>G	NP_570912.2:p.Thr30Ala
XM_005268015.3:c.88A>G	XP_005268072.1:p.Thr30Ala
NM_001202.5:c.88A>G	NP_001193.2:p.Thr30Ala
NM_001347912.1:c.229A>G	NP_001334841.1:p.Thr77Ala
NM_001347913.1:c.-102A>G	NP_001334842.1:n.-102A>G
NM_001347914.1:c.88A>G	NP_001334843.1:p.Thr30Ala
NM_001347915.1:c.-102A>G	NP_001334844.1:n.-102A>G
NM_001347916.1:c.88A>G	NP_001334845.1:p.Thr30Ala
NM_001347917.1:c.-102A>G	NP_001334846.1:n.-102A>G
NM_130850.4:c.88A>G	NP_570911.2:p.Thr30Ala
NM_130851.3:c.88A>G	NP_570912.2:p.Thr30Ala
NM_001202.6:c.88A>G MANE Select	NP_001193.2:p.Thr30Ala
NM_130850.5:c.88A>G	NP_570911.2:p.Thr30Ala
NM_001347913.2:c.-102A>G	NP_001334842.1:n.-102A>G
NM_001347914.2:c.88A>G	NP_001334843.1:p.Thr30Ala
NM_001347915.2:c.-102A>G	NP_001334844.1:n.-102A>G
NM_130851.4:c.88A>G	NP_570912.2:p.Thr30Ala