Canonical Allele Identifier: CA486480140
Gene: BMP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.54418917C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53952199C>G , CM000676.2:g.53952199C>G GRCh38
NC_000014.8:g.54418917C>G , CM000676.1:g.54418917C>G GRCh37
NC_000014.7:g.53488667C>G NCBI36
NG_009215.1:g.9638G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245451.9:c.24G>C MANE Select ENSP00000245451.4:p.Leu8=
ENST00000245451.8:c.24G>C ENSP00000245451.4:p.Leu8=
ENST00000417573.5:c.24G>C ENSP00000394165.1:p.Leu8=
ENST00000558984.1:c.24G>C ENSP00000454134.1:p.Leu8=
ENST00000559087.5:c.24G>C ENSP00000453485.1:p.Leu8=
ENST00000559501.1:c.-143-23G>C ENSP00000453365.1:n.-143-23G>C
ENST00000559642.1:c.24G>C ENSP00000453467.1:p.Leu8=
NM_001202.3:c.24G>C NP_001193.2:p.Leu8=
NM_130850.2:c.24G>C NP_570911.2:p.Leu8=
NM_130851.2:c.24G>C NP_570912.2:p.Leu8=
XM_005268015.3:c.24G>C XP_005268072.1:p.Leu8=
NM_001202.5:c.24G>C NP_001193.2:p.Leu8=
NM_001347912.1:c.188-23G>C NP_001334841.1:n.188-23G>C
NM_001347913.1:c.-143-23G>C NP_001334842.1:n.-143-23G>C
NM_001347914.1:c.24G>C NP_001334843.1:p.Leu8=
NM_001347915.1:c.-143-23G>C NP_001334844.1:n.-143-23G>C
NM_001347916.1:c.24G>C NP_001334845.1:p.Leu8=
NM_001347917.1:c.-143-23G>C NP_001334846.1:n.-143-23G>C
NM_130850.4:c.24G>C NP_570911.2:p.Leu8=
NM_130851.3:c.24G>C NP_570912.2:p.Leu8=
NM_001202.6:c.24G>C MANE Select NP_001193.2:p.Leu8=
NM_130850.5:c.24G>C NP_570911.2:p.Leu8=
NM_001347913.2:c.-143-23G>C NP_001334842.1:n.-143-23G>C
NM_001347914.2:c.24G>C NP_001334843.1:p.Leu8=
NM_001347915.2:c.-143-23G>C NP_001334844.1:n.-143-23G>C
NM_130851.4:c.24G>C NP_570912.2:p.Leu8=