Canonical Allele Identifier: CA7191853

Gene: BMP4

Linked Data

• ClinVar Variation Id: 1346066
• ClinVar RCV Id: RCV002029825
• dbSNP Id: rs377379589
• ExAC: 14:54418924 C / T
• gnomAD v2: 14-54418924-C-T
• gnomAD v3: 14-53952206-C-T
• gnomAD v4: 14-53952206-C-T
• MyVariant Identifiers: chr14:g.54418924C>T (hg19) ; chr14:g.53952206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53952206C>T , CM000676.2:g.53952206C>T	GRCh38
NC_000014.8:g.54418924C>T , CM000676.1:g.54418924C>T	GRCh37
NC_000014.7:g.53488674C>T	NCBI36
NG_009215.1:g.9631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245451.9:c.17G>A MANE Select	ENSP00000245451.4:p.Arg6Gln
ENST00000245451.8:c.17G>A	ENSP00000245451.4:p.Arg6Gln
ENST00000417573.5:c.17G>A	ENSP00000394165.1:p.Arg6Gln
ENST00000558984.1:c.17G>A	ENSP00000454134.1:p.Arg6Gln
ENST00000559087.5:c.17G>A	ENSP00000453485.1:p.Arg6Gln
ENST00000559501.1:c.-143-30G>A	ENSP00000453365.1:n.-143-30G>A
ENST00000559642.1:c.17G>A	ENSP00000453467.1:p.Arg6Gln
NM_001202.3:c.17G>A	NP_001193.2:p.Arg6Gln
NM_130850.2:c.17G>A	NP_570911.2:p.Arg6Gln
NM_130851.2:c.17G>A	NP_570912.2:p.Arg6Gln
XM_005268015.3:c.17G>A	XP_005268072.1:p.Arg6Gln
NM_001202.5:c.17G>A	NP_001193.2:p.Arg6Gln
NM_001347912.1:c.188-30G>A	NP_001334841.1:n.188-30G>A
NM_001347913.1:c.-143-30G>A	NP_001334842.1:n.-143-30G>A
NM_001347914.1:c.17G>A	NP_001334843.1:p.Arg6Gln
NM_001347915.1:c.-143-30G>A	NP_001334844.1:n.-143-30G>A
NM_001347916.1:c.17G>A	NP_001334845.1:p.Arg6Gln
NM_001347917.1:c.-143-30G>A	NP_001334846.1:n.-143-30G>A
NM_130850.4:c.17G>A	NP_570911.2:p.Arg6Gln
NM_130851.3:c.17G>A	NP_570912.2:p.Arg6Gln
NM_001202.6:c.17G>A MANE Select	NP_001193.2:p.Arg6Gln
NM_130850.5:c.17G>A	NP_570911.2:p.Arg6Gln
NM_001347913.2:c.-143-30G>A	NP_001334842.1:n.-143-30G>A
NM_001347914.2:c.17G>A	NP_001334843.1:p.Arg6Gln
NM_001347915.2:c.-143-30G>A	NP_001334844.1:n.-143-30G>A
NM_130851.4:c.17G>A	NP_570912.2:p.Arg6Gln