Canonical Allele Identifier: CA370312822

Gene: GATA4

Linked Data

• MyVariant Identifiers: chr8:g.11606560T>C (hg19) ; chr8:g.11749051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11749051T>C , CM000670.2:g.11749051T>C	GRCh38
NC_000008.10:g.11606560T>C , CM000670.1:g.11606560T>C	GRCh37
NC_000008.9:g.11643969T>C	NCBI36
NG_008177.2:g.77133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.749T>C	ENSP00000482268.2:p.Ile250Thr
ENST00000532059.6:c.752T>C MANE Select	ENSP00000435712.1:p.Ile251Thr
ENST00000335135.8:c.749T>C	ENSP00000334458.4:p.Ile250Thr
ENST00000526716.5:c.131T>C	ENSP00000435347.1:p.Ile44Thr
ENST00000528712.5:c.131T>C	ENSP00000435043.1:p.Ile44Thr
ENST00000532059.5:c.752T>C	ENSP00000435712.1:p.Ile251Thr
ENST00000622443.2:c.746T>C	ENSP00000482268.1:p.Ile249Thr
NM_001308093.1:c.752T>C	NP_001295022.1:p.Ile251Thr
NM_001308094.1:c.131T>C	NP_001295023.1:p.Ile44Thr
NM_002052.3:c.749T>C	NP_002043.2:p.Ile250Thr
NM_002052.4:c.749T>C	NP_002043.2:p.Ile250Thr
XM_005272385.3:c.752T>C	XP_005272442.1:p.Ile251Thr
XM_005272386.1:c.752T>C	XP_005272443.1:p.Ile251Thr
XM_006716248.1:c.752T>C	XP_006716311.1:p.Ile251Thr
XM_011543817.1:c.752T>C	XP_011542119.1:p.Ile251Thr
XM_011543818.1:c.752T>C	XP_011542120.1:p.Ile251Thr
XM_005272385.4:c.752T>C	XP_005272442.1:p.Ile251Thr
XM_011543817.3:c.752T>C	XP_011542119.1:p.Ile251Thr
XM_011543818.2:c.752T>C	XP_011542120.1:p.Ile251Thr
XM_017013312.2:c.752T>C	XP_016868801.1:p.Ile251Thr
NM_001308093.3:c.752T>C MANE Select	NP_001295022.1:p.Ile251Thr
NM_001308094.2:c.131T>C	NP_001295023.1:p.Ile44Thr
NM_001374273.1:c.131T>C	NP_001361202.1:p.Ile44Thr
NM_001374274.1:c.131T>C	NP_001361203.1:p.Ile44Thr
NM_002052.5:c.749T>C	NP_002043.2:p.Ile250Thr