Canonical Allele Identifier: CA370312887

Gene: GATA4

Linked Data

• gnomAD v4: 8-11749084-T-C
• MyVariant Identifiers: chr8:g.11606593T>C (hg19) ; chr8:g.11749084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11749084T>C , CM000670.2:g.11749084T>C	GRCh38
NC_000008.10:g.11606593T>C , CM000670.1:g.11606593T>C	GRCh37
NC_000008.9:g.11644002T>C	NCBI36
NG_008177.2:g.77166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.782T>C	ENSP00000482268.2:p.Leu261Pro
ENST00000532059.6:c.785T>C MANE Select	ENSP00000435712.1:p.Leu262Pro
ENST00000335135.8:c.782T>C	ENSP00000334458.4:p.Leu261Pro
ENST00000526716.5:c.164T>C	ENSP00000435347.1:p.Leu55Pro
ENST00000528712.5:c.164T>C	ENSP00000435043.1:p.Leu55Pro
ENST00000532059.5:c.785T>C	ENSP00000435712.1:p.Leu262Pro
ENST00000622443.2:c.779T>C	ENSP00000482268.1:p.Leu260Pro
NM_001308093.1:c.785T>C	NP_001295022.1:p.Leu262Pro
NM_001308094.1:c.164T>C	NP_001295023.1:p.Leu55Pro
NM_002052.3:c.782T>C	NP_002043.2:p.Leu261Pro
NM_002052.4:c.782T>C	NP_002043.2:p.Leu261Pro
XM_005272385.3:c.785T>C	XP_005272442.1:p.Leu262Pro
XM_005272386.1:c.785T>C	XP_005272443.1:p.Leu262Pro
XM_006716248.1:c.785T>C	XP_006716311.1:p.Leu262Pro
XM_011543817.1:c.785T>C	XP_011542119.1:p.Leu262Pro
XM_011543818.1:c.785T>C	XP_011542120.1:p.Leu262Pro
XM_005272385.4:c.785T>C	XP_005272442.1:p.Leu262Pro
XM_011543817.3:c.785T>C	XP_011542119.1:p.Leu262Pro
XM_011543818.2:c.785T>C	XP_011542120.1:p.Leu262Pro
XM_017013312.2:c.785T>C	XP_016868801.1:p.Leu262Pro
NM_001308093.3:c.785T>C MANE Select	NP_001295022.1:p.Leu262Pro
NM_001308094.2:c.164T>C	NP_001295023.1:p.Leu55Pro
NM_001374273.1:c.164T>C	NP_001361202.1:p.Leu55Pro
NM_001374274.1:c.164T>C	NP_001361203.1:p.Leu55Pro
NM_002052.5:c.782T>C	NP_002043.2:p.Leu261Pro