Canonical Allele Identifier: CA127330
Gene: BMP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 17703
ClinVar RCV Id: RCV000019277 RCV001109988 RCV002054447
dbSNP Id: rs121912767
ExAC: 14:54418669 G / C
gnomAD v2: 14-54418669-G-C
gnomAD v3: 14-53951951-G-C
gnomAD v4: 14-53951951-G-C
MyVariant Identifiers: chr14:g.54418669G>C (hg19) chr14:g.53951951G>C (hg38)
PubMed: PMID:19249007
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53951951G>C , CM000676.2:g.53951951G>C GRCh38
NC_000014.8:g.54418669G>C , CM000676.1:g.54418669G>C GRCh37
NC_000014.7:g.53488419G>C NCBI36
NG_009215.1:g.9886C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245451.9:c.272C>G MANE Select ENSP00000245451.4:p.Ser91Cys
ENST00000245451.8:c.272C>G ENSP00000245451.4:p.Ser91Cys
ENST00000417573.5:c.272C>G ENSP00000394165.1:p.Ser91Cys
ENST00000558961.1:c.197C>G ENSP00000453691.1:p.Ser66Cys
ENST00000558984.1:c.272C>G ENSP00000454134.1:p.Ser91Cys
ENST00000559087.5:c.272C>G ENSP00000453485.1:p.Ser91Cys
ENST00000559501.1:c.83C>G ENSP00000453365.1:p.Ser28Cys
ENST00000559642.1:c.272C>G ENSP00000453467.1:p.Ser91Cys
NM_001202.3:c.272C>G NP_001193.2:p.Ser91Cys
NM_130850.2:c.272C>G NP_570911.2:p.Ser91Cys
NM_130851.2:c.272C>G NP_570912.2:p.Ser91Cys
XM_005268015.3:c.272C>G XP_005268072.1:p.Ser91Cys
NM_001202.5:c.272C>G NP_001193.2:p.Ser91Cys
NM_001347912.1:c.413C>G NP_001334841.1:p.Ser138Cys
NM_001347913.1:c.83C>G NP_001334842.1:p.Ser28Cys
NM_001347914.1:c.272C>G NP_001334843.1:p.Ser91Cys
NM_001347915.1:c.83C>G NP_001334844.1:p.Ser28Cys
NM_001347916.1:c.272C>G NP_001334845.1:p.Ser91Cys
NM_001347917.1:c.83C>G NP_001334846.1:p.Ser28Cys
NM_130850.4:c.272C>G NP_570911.2:p.Ser91Cys
NM_130851.3:c.272C>G NP_570912.2:p.Ser91Cys
NM_001202.6:c.272C>G MANE Select NP_001193.2:p.Ser91Cys
NM_130850.5:c.272C>G NP_570911.2:p.Ser91Cys
NM_001347913.2:c.83C>G NP_001334842.1:p.Ser28Cys
NM_001347914.2:c.272C>G NP_001334843.1:p.Ser91Cys
NM_001347915.2:c.83C>G NP_001334844.1:p.Ser28Cys
NM_130851.4:c.272C>G NP_570912.2:p.Ser91Cys
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