Canonical Allele Identifier: CA614255355
Community Standard Title: NM_001202.6(BMP4):c.*213T>C
Gene: BMP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53949819A>G , CM000676.2:g.53949819A>G GRCh38
NC_000014.8:g.54416537A>G , CM000676.1:g.54416537A>G GRCh37
NC_000014.7:g.53486287A>G NCBI36
NG_009215.1:g.12018T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001202.6:c.*213T>C MANE Select NP_001193.2:n.*213T>C
ENST00000245451.9:c.*213T>C MANE Select ENSP00000245451.4:n.*213T>C
NM_001202.3:c.*213T>C NP_001193.2:n.*213T>C
NM_001202.5:c.*213T>C NP_001193.2:n.*213T>C
NM_001347912.1:c.*213T>C NP_001334841.1:n.*213T>C
NM_001347913.1:c.*213T>C NP_001334842.1:n.*213T>C
NM_001347913.2:c.*213T>C NP_001334842.1:n.*213T>C
NM_001347914.1:c.*213T>C NP_001334843.1:n.*213T>C
NM_001347914.2:c.*213T>C NP_001334843.1:n.*213T>C
NM_001347915.1:c.*213T>C NP_001334844.1:n.*213T>C
NM_001347915.2:c.*213T>C NP_001334844.1:n.*213T>C
NM_001347916.1:c.*213T>C NP_001334845.1:n.*213T>C
NM_001347917.1:c.*213T>C NP_001334846.1:n.*213T>C
NM_130850.2:c.*213T>C NP_570911.2:n.*213T>C
NM_130850.4:c.*213T>C NP_570911.2:n.*213T>C
NM_130850.5:c.*213T>C NP_570911.2:n.*213T>C
NM_130851.2:c.*213T>C NP_570912.2:n.*213T>C
NM_130851.3:c.*213T>C NP_570912.2:n.*213T>C
NM_130851.4:c.*213T>C NP_570912.2:n.*213T>C
ENST00000245451.8:c.*213T>C ENSP00000245451.4:n.*213T>C
ENST00000417573.5:c.*213T>C ENSP00000394165.1:n.*213T>C
ENST00000558984.1:c.*213T>C ENSP00000454134.1:n.*213T>C
ENST00000559087.5:c.*213T>C ENSP00000453485.1:n.*213T>C
XM_005268015.3:c.*213T>C XP_005268072.1:n.*213T>C