Canonical Allele Identifier: CA486658784
Gene: BMP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.54418742G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53952024G>A , CM000676.2:g.53952024G>A GRCh38
NC_000014.8:g.54418742G>A , CM000676.1:g.54418742G>A GRCh37
NC_000014.7:g.53488492G>A NCBI36
NG_009215.1:g.9813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245451.9:c.199C>T MANE Select ENSP00000245451.4:p.Leu67=
ENST00000245451.8:c.199C>T ENSP00000245451.4:p.Leu67=
ENST00000417573.5:c.199C>T ENSP00000394165.1:p.Leu67=
ENST00000558961.1:c.124C>T ENSP00000453691.1:p.Leu42=
ENST00000558984.1:c.199C>T ENSP00000454134.1:p.Leu67=
ENST00000559087.5:c.199C>T ENSP00000453485.1:p.Leu67=
ENST00000559501.1:c.10C>T ENSP00000453365.1:p.Leu4=
ENST00000559642.1:c.199C>T ENSP00000453467.1:p.Leu67=
NM_001202.3:c.199C>T NP_001193.2:p.Leu67=
NM_130850.2:c.199C>T NP_570911.2:p.Leu67=
NM_130851.2:c.199C>T NP_570912.2:p.Leu67=
XM_005268015.3:c.199C>T XP_005268072.1:p.Leu67=
NM_001202.5:c.199C>T NP_001193.2:p.Leu67=
NM_001347912.1:c.340C>T NP_001334841.1:p.Leu114=
NM_001347913.1:c.10C>T NP_001334842.1:p.Leu4=
NM_001347914.1:c.199C>T NP_001334843.1:p.Leu67=
NM_001347915.1:c.10C>T NP_001334844.1:p.Leu4=
NM_001347916.1:c.199C>T NP_001334845.1:p.Leu67=
NM_001347917.1:c.10C>T NP_001334846.1:p.Leu4=
NM_130850.4:c.199C>T NP_570911.2:p.Leu67=
NM_130851.3:c.199C>T NP_570912.2:p.Leu67=
NM_001202.6:c.199C>T MANE Select NP_001193.2:p.Leu67=
NM_130850.5:c.199C>T NP_570911.2:p.Leu67=
NM_001347913.2:c.10C>T NP_001334842.1:p.Leu4=
NM_001347914.2:c.199C>T NP_001334843.1:p.Leu67=
NM_001347915.2:c.10C>T NP_001334844.1:p.Leu4=
NM_130851.4:c.199C>T NP_570912.2:p.Leu67=