Canonical Allele Identifier: CA4630821

Gene: GATA4

Linked Data

• ClinVar Variation Id: 958955
• ClinVar RCV Id: RCV001232218
• dbSNP Id: rs139893755
• ExAC: 8:11614531 G / A
• gnomAD v2: 8-11614531-G-A
• gnomAD v3: 8-11757022-G-A
• gnomAD v4: 8-11757022-G-A
• MyVariant Identifiers: chr8:g.11614531G>A (hg19) ; chr8:g.11757022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11757022G>A , CM000670.2:g.11757022G>A	GRCh38
NC_000008.10:g.11614531G>A , CM000670.1:g.11614531G>A	GRCh37
NC_000008.9:g.11651940G>A	NCBI36
NG_008177.2:g.85104G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.1085G>A	ENSP00000482268.2:p.Arg362His
ENST00000532059.6:c.1088G>A MANE Select	ENSP00000435712.1:p.Arg363His
ENST00000335135.8:c.1085G>A	ENSP00000334458.4:p.Arg362His
ENST00000526021.1:n.530G>A
ENST00000526716.5:c.467G>A	ENSP00000435347.1:p.Arg156His
ENST00000528712.5:c.467G>A	ENSP00000435043.1:p.Arg156His
ENST00000532059.5:c.1088G>A	ENSP00000435712.1:p.Arg363His
ENST00000622443.2:c.1082G>A	ENSP00000482268.1:p.Arg361His
NM_001308093.1:c.1088G>A	NP_001295022.1:p.Arg363His
NM_001308094.1:c.467G>A	NP_001295023.1:p.Arg156His
NM_002052.3:c.1085G>A	NP_002043.2:p.Arg362His
NM_002052.4:c.1085G>A	NP_002043.2:p.Arg362His
XM_005272385.3:c.1088G>A	XP_005272442.1:p.Arg363His
XM_005272386.1:c.1088G>A	XP_005272443.1:p.Arg363His
XM_006716248.1:c.1088G>A	XP_006716311.1:p.Arg363His
XM_011543817.1:c.1088G>A	XP_011542119.1:p.Arg363His
XM_011543818.1:c.1088G>A	XP_011542120.1:p.Arg363His
XM_005272385.4:c.1088G>A	XP_005272442.1:p.Arg363His
XM_011543817.3:c.1088G>A	XP_011542119.1:p.Arg363His
XM_011543818.2:c.1088G>A	XP_011542120.1:p.Arg363His
XM_017013312.2:c.1088G>A	XP_016868801.1:p.Arg363His
NM_001308093.3:c.1088G>A MANE Select	NP_001295022.1:p.Arg363His
NM_001308094.2:c.467G>A	NP_001295023.1:p.Arg156His
NM_001374273.1:c.467G>A	NP_001361202.1:p.Arg156His
NM_001374274.1:c.341G>A	NP_001361203.1:p.Arg114His
NM_002052.5:c.1085G>A	NP_002043.2:p.Arg362His