Canonical Allele Identifier: CA7191786

Gene: BMP4

Linked Data

• ClinVar Variation Id: 767320
• ClinVar RCV Id: RCV000946030 ; RCV001114026 ; RCV001114027 ; RCV001578226 ; RCV001700514
• dbSNP Id: rs143687498
• ExAC: 14:54418596 G / A
• gnomAD v2: 14-54418596-G-A
• gnomAD v3: 14-53951878-G-A
• gnomAD v4: 14-53951878-G-A
• MyVariant Identifiers: chr14:g.54418596G>A (hg19) ; chr14:g.53951878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53951878G>A , CM000676.2:g.53951878G>A	GRCh38
NC_000014.8:g.54418596G>A , CM000676.1:g.54418596G>A	GRCh37
NC_000014.7:g.53488346G>A	NCBI36
NG_009215.1:g.9959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.345C>T MANE Select	ENSP00000245451.4:p.Asn115=
ENST00000245451.8:c.345C>T	ENSP00000245451.4:p.Asn115=
ENST00000417573.5:c.345C>T	ENSP00000394165.1:p.Asn115=
ENST00000558961.1:c.270C>T	ENSP00000453691.1:p.Asn90=
ENST00000558984.1:c.345C>T	ENSP00000454134.1:p.Asn115=
ENST00000559087.5:c.345C>T	ENSP00000453485.1:p.Asn115=
ENST00000559501.1:c.156C>T	ENSP00000453365.1:p.Asn52=
ENST00000609748.1:c.3C>T	ENSP00000476690.1:p.Asn1=
NM_001202.3:c.345C>T	NP_001193.2:p.Asn115=
NM_130850.2:c.345C>T	NP_570911.2:p.Asn115=
NM_130851.2:c.345C>T	NP_570912.2:p.Asn115=
XM_005268015.3:c.345C>T	XP_005268072.1:p.Asn115=
NM_001202.5:c.345C>T	NP_001193.2:p.Asn115=
NM_001347912.1:c.486C>T	NP_001334841.1:p.Asn162=
NM_001347913.1:c.156C>T	NP_001334842.1:p.Asn52=
NM_001347914.1:c.345C>T	NP_001334843.1:p.Asn115=
NM_001347915.1:c.156C>T	NP_001334844.1:p.Asn52=
NM_001347916.1:c.345C>T	NP_001334845.1:p.Asn115=
NM_001347917.1:c.156C>T	NP_001334846.1:p.Asn52=
NM_130850.4:c.345C>T	NP_570911.2:p.Asn115=
NM_130851.3:c.345C>T	NP_570912.2:p.Asn115=
NM_001202.6:c.345C>T MANE Select	NP_001193.2:p.Asn115=
NM_130850.5:c.345C>T	NP_570911.2:p.Asn115=
NM_001347913.2:c.156C>T	NP_001334842.1:p.Asn52=
NM_001347914.2:c.345C>T	NP_001334843.1:p.Asn115=
NM_001347915.2:c.156C>T	NP_001334844.1:p.Asn52=
NM_130851.4:c.345C>T	NP_570912.2:p.Asn115=