Canonical Allele Identifier: CA7191734

Gene: BMP4

Linked Data

• ClinVar Variation Id: 633667
• ClinVar RCV Id: RCV000782227
• dbSNP Id: rs767216159
• ExAC: 14:54417527 G / C
• gnomAD v2: 14-54417527-G-C
• gnomAD v4: 14-53950809-G-C
• MyVariant Identifiers: chr14:g.54417527G>C (hg19) ; chr14:g.53950809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53950809G>C , CM000676.2:g.53950809G>C	GRCh38
NC_000014.8:g.54417527G>C , CM000676.1:g.54417527G>C	GRCh37
NC_000014.7:g.53487277G>C	NCBI36
NG_009215.1:g.11028C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000245451.9:c.450C>G MANE Select	ENSP00000245451.4:p.Asn150Lys
ENST00000245451.8:c.450C>G	ENSP00000245451.4:p.Asn150Lys
ENST00000417573.5:c.450C>G	ENSP00000394165.1:p.Asn150Lys
ENST00000558961.1:c.308C>G	ENSP00000453691.1:p.Thr103Arg
ENST00000558984.1:c.450C>G	ENSP00000454134.1:p.Asn150Lys
ENST00000559087.5:c.450C>G	ENSP00000453485.1:p.Asn150Lys
ENST00000559501.1:c.261C>G	ENSP00000453365.1:p.Asn87Lys
NM_001202.3:c.450C>G	NP_001193.2:p.Asn150Lys
NM_130850.2:c.450C>G	NP_570911.2:p.Asn150Lys
NM_130851.2:c.450C>G	NP_570912.2:p.Asn150Lys
XM_005268015.3:c.450C>G	XP_005268072.1:p.Asn150Lys
NM_001202.5:c.450C>G	NP_001193.2:p.Asn150Lys
NM_001347912.1:c.591C>G	NP_001334841.1:p.Asn197Lys
NM_001347913.1:c.261C>G	NP_001334842.1:p.Asn87Lys
NM_001347914.1:c.450C>G	NP_001334843.1:p.Asn150Lys
NM_001347915.1:c.261C>G	NP_001334844.1:p.Asn87Lys
NM_001347916.1:c.450C>G	NP_001334845.1:p.Asn150Lys
NM_001347917.1:c.261C>G	NP_001334846.1:p.Asn87Lys
NM_130850.4:c.450C>G	NP_570911.2:p.Asn150Lys
NM_130851.3:c.450C>G	NP_570912.2:p.Asn150Lys
NM_001202.6:c.450C>G MANE Select	NP_001193.2:p.Asn150Lys
NM_130850.5:c.450C>G	NP_570911.2:p.Asn150Lys
NM_001347913.2:c.261C>G	NP_001334842.1:p.Asn87Lys
NM_001347914.2:c.450C>G	NP_001334843.1:p.Asn150Lys
NM_001347915.2:c.261C>G	NP_001334844.1:p.Asn87Lys
NM_130851.4:c.450C>G	NP_570912.2:p.Asn150Lys