Canonical Allele Identifier: CA7191834

Gene: BMP4

Linked Data

• ClinVar Variation Id: 721286
• ClinVar RCV Id: RCV000894772
• dbSNP Id: rs375563326
• ExAC: 14:54418848 C / G
• gnomAD v2: 14-54418848-C-G
• gnomAD v3: 14-53952130-C-G
• gnomAD v4: 14-53952130-C-G
• MyVariant Identifiers: chr14:g.54418848C>G (hg19) ; chr14:g.53952130C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53952130C>G , CM000676.2:g.53952130C>G	GRCh38
NC_000014.8:g.54418848C>G , CM000676.1:g.54418848C>G	GRCh37
NC_000014.7:g.53488598C>G	NCBI36
NG_009215.1:g.9707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.93G>C MANE Select	ENSP00000245451.4:p.Gly31=
ENST00000245451.8:c.93G>C	ENSP00000245451.4:p.Gly31=
ENST00000417573.5:c.93G>C	ENSP00000394165.1:p.Gly31=
ENST00000558961.1:c.18G>C	ENSP00000453691.1:p.Gly6=
ENST00000558984.1:c.93G>C	ENSP00000454134.1:p.Gly31=
ENST00000559087.5:c.93G>C	ENSP00000453485.1:p.Gly31=
ENST00000559501.1:c.-97G>C	ENSP00000453365.1:n.-97G>C
ENST00000559642.1:c.93G>C	ENSP00000453467.1:p.Gly31=
NM_001202.3:c.93G>C	NP_001193.2:p.Gly31=
NM_130850.2:c.93G>C	NP_570911.2:p.Gly31=
NM_130851.2:c.93G>C	NP_570912.2:p.Gly31=
XM_005268015.3:c.93G>C	XP_005268072.1:p.Gly31=
NM_001202.5:c.93G>C	NP_001193.2:p.Gly31=
NM_001347912.1:c.234G>C	NP_001334841.1:p.Gly78=
NM_001347913.1:c.-97G>C	NP_001334842.1:n.-97G>C
NM_001347914.1:c.93G>C	NP_001334843.1:p.Gly31=
NM_001347915.1:c.-97G>C	NP_001334844.1:n.-97G>C
NM_001347916.1:c.93G>C	NP_001334845.1:p.Gly31=
NM_001347917.1:c.-97G>C	NP_001334846.1:n.-97G>C
NM_130850.4:c.93G>C	NP_570911.2:p.Gly31=
NM_130851.3:c.93G>C	NP_570912.2:p.Gly31=
NM_001202.6:c.93G>C MANE Select	NP_001193.2:p.Gly31=
NM_130850.5:c.93G>C	NP_570911.2:p.Gly31=
NM_001347913.2:c.-97G>C	NP_001334842.1:n.-97G>C
NM_001347914.2:c.93G>C	NP_001334843.1:p.Gly31=
NM_001347915.2:c.-97G>C	NP_001334844.1:n.-97G>C
NM_130851.4:c.93G>C	NP_570912.2:p.Gly31=