Canonical Allele Identifier: CA370313016

Gene: GATA4

Linked Data

• MyVariant Identifiers: chr8:g.11607678T>G (hg19) ; chr8:g.11750169T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11750169T>G , CM000670.2:g.11750169T>G	GRCh38
NC_000008.10:g.11607678T>G , CM000670.1:g.11607678T>G	GRCh37
NC_000008.9:g.11645087T>G	NCBI36
NG_008177.2:g.78251T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.842T>G	ENSP00000482268.2:p.Leu281Arg
ENST00000532059.6:c.845T>G MANE Select	ENSP00000435712.1:p.Leu282Arg
ENST00000335135.8:c.842T>G	ENSP00000334458.4:p.Leu281Arg
ENST00000526716.5:c.224T>G	ENSP00000435347.1:p.Leu75Arg
ENST00000528712.5:c.224T>G	ENSP00000435043.1:p.Leu75Arg
ENST00000532059.5:c.845T>G	ENSP00000435712.1:p.Leu282Arg
ENST00000622443.2:c.839T>G	ENSP00000482268.1:p.Leu280Arg
NM_001308093.1:c.845T>G	NP_001295022.1:p.Leu282Arg
NM_001308094.1:c.224T>G	NP_001295023.1:p.Leu75Arg
NM_002052.3:c.842T>G	NP_002043.2:p.Leu281Arg
NM_002052.4:c.842T>G	NP_002043.2:p.Leu281Arg
XM_005272385.3:c.845T>G	XP_005272442.1:p.Leu282Arg
XM_005272386.1:c.845T>G	XP_005272443.1:p.Leu282Arg
XM_006716248.1:c.845T>G	XP_006716311.1:p.Leu282Arg
XM_011543817.1:c.845T>G	XP_011542119.1:p.Leu282Arg
XM_011543818.1:c.845T>G	XP_011542120.1:p.Leu282Arg
XM_005272385.4:c.845T>G	XP_005272442.1:p.Leu282Arg
XM_011543817.3:c.845T>G	XP_011542119.1:p.Leu282Arg
XM_011543818.2:c.845T>G	XP_011542120.1:p.Leu282Arg
XM_017013312.2:c.845T>G	XP_016868801.1:p.Leu282Arg
NM_001308093.3:c.845T>G MANE Select	NP_001295022.1:p.Leu282Arg
NM_001308094.2:c.224T>G	NP_001295023.1:p.Leu75Arg
NM_001374273.1:c.224T>G	NP_001361202.1:p.Leu75Arg
NM_001374274.1:c.165+1084T>G	NP_001361203.1:n.165+1084T>G
NM_002052.5:c.842T>G	NP_002043.2:p.Leu281Arg