Canonical Allele Identifier: CA13959806
Gene: BMP4 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.53954334G>T
GRCh37 chr14:g.54421052G>T
gnomAD v2:
14:54421052 G / T
gnomAD v3:
14:53954334 G / T
gnomAD v4:
chr14-53954334-G-T
Joint Max Group AF 0.43697302 (EAS)
Genomes Max Group AF 0.43697302 (EAS)
Exomes Max Group AF 0.06831518 (NFE)
dbSNP:
2761884
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.53954334G>T , CM000676.2:g.53954334G>T GRCh38
NC_000014.8:g.54421052G>T , CM000676.1:g.54421052G>T GRCh37
NC_000014.7:g.53490802G>T NCBI36
NG_009215.1:g.7503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245451.9:c.-132-934C>A MANE Select ENSP00000245451.4:n.-132-934C>A
ENST00000245451.8:c.-132-934C>A ENSP00000245451.4:n.-132-934C>A
ENST00000417573.5:c.-133+87C>A ENSP00000394165.1:n.-133+87C>A
ENST00000559087.5:c.-132-934C>A ENSP00000453485.1:n.-132-934C>A
ENST00000559642.1:c.-132-934C>A ENSP00000453467.1:n.-132-934C>A
NM_001202.3:c.-132-934C>A NP_001193.2:n.-132-934C>A
NM_130850.2:c.-132-934C>A NP_570911.2:n.-132-934C>A
NM_130851.2:c.-133+87C>A NP_570912.2:n.-133+87C>A
XM_005268015.3:c.-133+292C>A XP_005268072.1:n.-133+292C>A
NM_001202.5:c.-132-934C>A NP_001193.2:n.-132-934C>A
NM_001347912.1:c.63-934C>A NP_001334841.1:n.63-934C>A
NM_001347913.1:c.-268-934C>A NP_001334842.1:n.-268-934C>A
NM_001347916.1:c.-133+292C>A NP_001334845.1:n.-133+292C>A
NM_001347917.1:c.-269+292C>A NP_001334846.1:n.-269+292C>A
NM_130850.4:c.-132-934C>A NP_570911.2:n.-132-934C>A
NM_130851.3:c.-133+87C>A NP_570912.2:n.-133+87C>A
NM_001202.6:c.-132-934C>A MANE Select NP_001193.2:n.-132-934C>A
NM_130850.5:c.-132-934C>A NP_570911.2:n.-132-934C>A
NM_001347913.2:c.-268-934C>A NP_001334842.1:n.-268-934C>A
NM_130851.4:c.-133+87C>A NP_570912.2:n.-133+87C>A
Search 100 bp 5'
Search 100 bp 3'