Canonical Allele Identifier: CA261472788

Gene: BMP4

Linked Data

• ClinVar Variation Id: 1974220
• ClinVar RCV Id: RCV002765510
• dbSNP Id: rs756353828
• gnomAD v4: 14-53952100-G-A
• MyVariant Identifiers: chr14:g.54418818G>A (hg19) ; chr14:g.53952100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53952100G>A , CM000676.2:g.53952100G>A	GRCh38
NC_000014.8:g.54418818G>A , CM000676.1:g.54418818G>A	GRCh37
NC_000014.7:g.53488568G>A	NCBI36
NG_009215.1:g.9737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.123C>T MANE Select	ENSP00000245451.4:p.His41=
ENST00000245451.8:c.123C>T	ENSP00000245451.4:p.His41=
ENST00000417573.5:c.123C>T	ENSP00000394165.1:p.His41=
ENST00000558961.1:c.48C>T	ENSP00000453691.1:p.His16=
ENST00000558984.1:c.123C>T	ENSP00000454134.1:p.His41=
ENST00000559087.5:c.123C>T	ENSP00000453485.1:p.His41=
ENST00000559501.1:c.-67C>T	ENSP00000453365.1:n.-67C>T
ENST00000559642.1:c.123C>T	ENSP00000453467.1:p.His41=
NM_001202.3:c.123C>T	NP_001193.2:p.His41=
NM_130850.2:c.123C>T	NP_570911.2:p.His41=
NM_130851.2:c.123C>T	NP_570912.2:p.His41=
XM_005268015.3:c.123C>T	XP_005268072.1:p.His41=
NM_001202.5:c.123C>T	NP_001193.2:p.His41=
NM_001347912.1:c.264C>T	NP_001334841.1:p.His88=
NM_001347913.1:c.-67C>T	NP_001334842.1:n.-67C>T
NM_001347914.1:c.123C>T	NP_001334843.1:p.His41=
NM_001347915.1:c.-67C>T	NP_001334844.1:n.-67C>T
NM_001347916.1:c.123C>T	NP_001334845.1:p.His41=
NM_001347917.1:c.-67C>T	NP_001334846.1:n.-67C>T
NM_130850.4:c.123C>T	NP_570911.2:p.His41=
NM_130851.3:c.123C>T	NP_570912.2:p.His41=
NM_001202.6:c.123C>T MANE Select	NP_001193.2:p.His41=
NM_130850.5:c.123C>T	NP_570911.2:p.His41=
NM_001347913.2:c.-67C>T	NP_001334842.1:n.-67C>T
NM_001347914.2:c.123C>T	NP_001334843.1:p.His41=
NM_001347915.2:c.-67C>T	NP_001334844.1:n.-67C>T
NM_130851.4:c.123C>T	NP_570912.2:p.His41=