Canonical Allele Identifier: CA4630920

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1218414
• ClinVar RCV Id: RCV001592256 ; RCV003948634
• dbSNP Id: rs185843389
• ExAC: 8:11615993 C / T
• gnomAD v2: 8-11615993-C-T
• gnomAD v3: 8-11758484-C-T
• gnomAD v4: 8-11758484-C-T
• MyVariant Identifiers: chr8:g.11615993C>T (hg19) ; chr8:g.11758484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11758484C>T , CM000670.2:g.11758484C>T	GRCh38
NC_000008.10:g.11615993C>T , CM000670.1:g.11615993C>T	GRCh37
NC_000008.9:g.11653402C>T	NCBI36
NG_008177.2:g.86566C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.*9C>T	ENSP00000482268.2:n.*9C>T
ENST00000532059.6:c.*9C>T MANE Select	ENSP00000435712.1:n.*9C>T
ENST00000335135.8:c.*9C>T	ENSP00000334458.4:n.*9C>T
ENST00000526021.1:n.783C>T
ENST00000528712.5:c.*9C>T	ENSP00000435043.1:n.*9C>T
ENST00000532059.5:c.*9C>T	ENSP00000435712.1:n.*9C>T
ENST00000622443.2:c.1335C>T	ENSP00000482268.1:n.1335C>T
NM_001308093.1:c.*9C>T	NP_001295022.1:n.*9C>T
NM_001308094.1:c.*9C>T	NP_001295023.1:n.*9C>T
NM_002052.3:c.*9C>T	NP_002043.2:n.*9C>T
NM_002052.4:c.*9C>T	NP_002043.2:n.*9C>T
XM_005272385.3:c.*9C>T	XP_005272442.1:n.*9C>T
XM_005272386.1:c.*9C>T	XP_005272443.1:n.*9C>T
XM_006716248.1:c.*9C>T	XP_006716311.1:n.*9C>T
XM_011543817.1:c.*9C>T	XP_011542119.1:n.*9C>T
XM_011543818.1:c.*9C>T	XP_011542120.1:n.*9C>T
XM_005272385.4:c.*9C>T	XP_005272442.1:n.*9C>T
XM_011543817.3:c.*9C>T	XP_011542119.1:n.*9C>T
XM_011543818.2:c.*9C>T	XP_011542120.1:n.*9C>T
XM_017013312.2:c.*9C>T	XP_016868801.1:n.*9C>T
NM_001308093.3:c.*9C>T MANE Select	NP_001295022.1:n.*9C>T
NM_001308094.2:c.*9C>T	NP_001295023.1:n.*9C>T
NM_001374273.1:c.*9C>T	NP_001361202.1:n.*9C>T
NM_001374274.1:c.*9C>T	NP_001361203.1:n.*9C>T
NM_002052.5:c.*9C>T	NP_002043.2:n.*9C>T