Canonical Allele Identifier: CA7191797

Gene: BMP4

Linked Data

• ClinVar Variation Id: 883532
• ClinVar RCV Id: RCV001114028 ; RCV001114029 ; RCV002556227
• dbSNP Id: rs371239780
• ExAC: 14:54418636 G / A
• gnomAD v2: 14-54418636-G-A
• gnomAD v3: 14-53951918-G-A
• gnomAD v4: 14-53951918-G-A
• MyVariant Identifiers: chr14:g.54418636G>A (hg19) ; chr14:g.53951918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951918G>A , CM000676.2:g.53951918G>A	GRCh38
NC_000014.8:g.54418636G>A , CM000676.1:g.54418636G>A	GRCh37
NC_000014.7:g.53488386G>A	NCBI36
NG_009215.1:g.9919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.305C>T MANE Select	ENSP00000245451.4:p.Thr102Ile
ENST00000245451.8:c.305C>T	ENSP00000245451.4:p.Thr102Ile
ENST00000417573.5:c.305C>T	ENSP00000394165.1:p.Thr102Ile
ENST00000558961.1:c.230C>T	ENSP00000453691.1:p.Thr77Ile
ENST00000558984.1:c.305C>T	ENSP00000454134.1:p.Thr102Ile
ENST00000559087.5:c.305C>T	ENSP00000453485.1:p.Thr102Ile
ENST00000559501.1:c.116C>T	ENSP00000453365.1:p.Thr39Ile
ENST00000559642.1:c.305C>T	ENSP00000453467.1:p.Thr102Ile
NM_001202.3:c.305C>T	NP_001193.2:p.Thr102Ile
NM_130850.2:c.305C>T	NP_570911.2:p.Thr102Ile
NM_130851.2:c.305C>T	NP_570912.2:p.Thr102Ile
XM_005268015.3:c.305C>T	XP_005268072.1:p.Thr102Ile
NM_001202.5:c.305C>T	NP_001193.2:p.Thr102Ile
NM_001347912.1:c.446C>T	NP_001334841.1:p.Thr149Ile
NM_001347913.1:c.116C>T	NP_001334842.1:p.Thr39Ile
NM_001347914.1:c.305C>T	NP_001334843.1:p.Thr102Ile
NM_001347915.1:c.116C>T	NP_001334844.1:p.Thr39Ile
NM_001347916.1:c.305C>T	NP_001334845.1:p.Thr102Ile
NM_001347917.1:c.116C>T	NP_001334846.1:p.Thr39Ile
NM_130850.4:c.305C>T	NP_570911.2:p.Thr102Ile
NM_130851.3:c.305C>T	NP_570912.2:p.Thr102Ile
NM_001202.6:c.305C>T MANE Select	NP_001193.2:p.Thr102Ile
NM_130850.5:c.305C>T	NP_570911.2:p.Thr102Ile
NM_001347913.2:c.116C>T	NP_001334842.1:p.Thr39Ile
NM_001347914.2:c.305C>T	NP_001334843.1:p.Thr102Ile
NM_001347915.2:c.116C>T	NP_001334844.1:p.Thr39Ile
NM_130851.4:c.305C>T	NP_570912.2:p.Thr102Ile