Canonical Allele Identifier: CA172074445

Gene: GATA4

Linked Data

• dbSNP Id: rs954460490
• gnomAD v4: 8-11708379-C-A
• MyVariant Identifiers: chr8:g.11565888C>A (hg19) ; chr8:g.11708379C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708379C>A , CM000670.2:g.11708379C>A	GRCh38
NC_000008.10:g.11565888C>A , CM000670.1:g.11565888C>A	GRCh37
NC_000008.9:g.11603297C>A	NCBI36
NG_008177.2:g.36461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.67C>A	ENSP00000482268.2:p.Pro23Thr
ENST00000532059.6:c.67C>A MANE Select	ENSP00000435712.1:p.Pro23Thr
ENST00000335135.8:c.67C>A	ENSP00000334458.4:p.Pro23Thr
ENST00000526716.5:c.-6+4075C>A	ENSP00000435347.1:n.-6+4075C>A
ENST00000526974.1:c.67C>A	ENSP00000473598.1:p.Pro23Thr
ENST00000528027.1:c.67C>A	ENSP00000432278.1:p.Pro23Thr
ENST00000528712.5:c.-6+7601C>A	ENSP00000435043.1:n.-6+7601C>A
ENST00000532059.5:c.67C>A	ENSP00000435712.1:p.Pro23Thr
ENST00000622443.2:c.66C>A	ENSP00000482268.1:p.Ala22=
NM_001308093.1:c.67C>A	NP_001295022.1:p.Pro23Thr
NM_001308094.1:c.-6+7601C>A	NP_001295023.1:n.-6+7601C>A
NM_002052.3:c.67C>A	NP_002043.2:p.Pro23Thr
NM_002052.4:c.67C>A	NP_002043.2:p.Pro23Thr
XM_005272385.3:c.67C>A	XP_005272442.1:p.Pro23Thr
XM_005272386.1:c.67C>A	XP_005272443.1:p.Pro23Thr
XM_006716248.1:c.67C>A	XP_006716311.1:p.Pro23Thr
XM_011543817.1:c.67C>A	XP_011542119.1:p.Pro23Thr
XM_011543818.1:c.67C>A	XP_011542120.1:p.Pro23Thr
XM_005272385.4:c.67C>A	XP_005272442.1:p.Pro23Thr
XM_011543817.3:c.67C>A	XP_011542119.1:p.Pro23Thr
XM_011543818.2:c.67C>A	XP_011542120.1:p.Pro23Thr
XM_017013312.2:c.67C>A	XP_016868801.1:p.Pro23Thr
NM_001308093.3:c.67C>A MANE Select	NP_001295022.1:p.Pro23Thr
NM_001308094.2:c.-6+7601C>A	NP_001295023.1:n.-6+7601C>A
NM_001374273.1:c.-3+4075C>A	NP_001361202.1:n.-3+4075C>A
NM_001374274.1:c.-3+365C>A	NP_001361203.1:n.-3+365C>A
NM_002052.5:c.67C>A	NP_002043.2:p.Pro23Thr