Canonical Allele Identifier: CA13959809

Gene: BMP4

Linked Data

• dbSNP Id: rs2738265
• gnomAD v2: 14-54422399-C-G
• gnomAD v3: 14-53955681-C-G
• gnomAD v4: 14-53955681-C-G
• MyVariant Identifiers: chr14:g.54422399C>G (hg19) ; chr14:g.53955681C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.53955681C>G , CM000676.2:g.53955681C>G	GRCh38
NC_000014.8:g.54422399C>G , CM000676.1:g.54422399C>G	GRCh37
NC_000014.7:g.53492149C>G	NCBI36
NG_009215.1:g.6156G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000245451.9:c.-133+869G>C MANE Select	ENSP00000245451.4:n.-133+869G>C
ENST00000245451.8:c.-133+869G>C	ENSP00000245451.4:n.-133+869G>C
ENST00000558489.1:n.390G>C
ENST00000559087.5:c.-133+1078G>C	ENSP00000453485.1:n.-133+1078G>C
ENST00000559642.1:c.-132-2281G>C	ENSP00000453467.1:n.-132-2281G>C
NM_001202.3:c.-133+869G>C	NP_001193.2:n.-133+869G>C
NM_130850.2:c.-133+1078G>C	NP_570911.2:n.-133+1078G>C
NM_001202.5:c.-133+869G>C	NP_001193.2:n.-133+869G>C
NM_001347912.1:c.62+1078G>C	NP_001334841.1:n.62+1078G>C
NM_001347913.1:c.-269+869G>C	NP_001334842.1:n.-269+869G>C
NM_130850.4:c.-133+1078G>C	NP_570911.2:n.-133+1078G>C
NM_001202.6:c.-133+869G>C MANE Select	NP_001193.2:n.-133+869G>C
NM_130850.5:c.-133+1078G>C	NP_570911.2:n.-133+1078G>C
NM_001347913.2:c.-269+869G>C	NP_001334842.1:n.-269+869G>C