Canonical Allele Identifier: CA4630766

Gene: GATA4

Linked Data

• dbSNP Id: rs56298569
• ExAC: 8:11612591 C / T
• gnomAD v2: 8-11612591-C-T
• gnomAD v4: 8-11755082-C-T
• MyVariant Identifiers: chr8:g.11612591C>T (hg19) ; chr8:g.11755082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11755082C>T , CM000670.2:g.11755082C>T	GRCh38
NC_000008.10:g.11612591C>T , CM000670.1:g.11612591C>T	GRCh37
NC_000008.9:g.11650000C>T	NCBI36
NG_008177.2:g.83164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.946C>T	ENSP00000482268.2:p.Gln316Ter
ENST00000532059.6:c.949C>T MANE Select	ENSP00000435712.1:p.Gln317Ter
ENST00000335135.8:c.946C>T	ENSP00000334458.4:p.Gln316Ter
ENST00000526716.5:c.328C>T	ENSP00000435347.1:p.Gln110Ter
ENST00000528712.5:c.328C>T	ENSP00000435043.1:p.Gln110Ter
ENST00000532059.5:c.949C>T	ENSP00000435712.1:p.Gln317Ter
ENST00000622443.2:c.943C>T	ENSP00000482268.1:p.Gln315Ter
NM_001308093.1:c.949C>T	NP_001295022.1:p.Gln317Ter
NM_001308094.1:c.328C>T	NP_001295023.1:p.Gln110Ter
NM_002052.3:c.946C>T	NP_002043.2:p.Gln316Ter
NM_002052.4:c.946C>T	NP_002043.2:p.Gln316Ter
XM_005272385.3:c.949C>T	XP_005272442.1:p.Gln317Ter
XM_005272386.1:c.949C>T	XP_005272443.1:p.Gln317Ter
XM_006716248.1:c.949C>T	XP_006716311.1:p.Gln317Ter
XM_011543817.1:c.949C>T	XP_011542119.1:p.Gln317Ter
XM_011543818.1:c.949C>T	XP_011542120.1:p.Gln317Ter
XM_005272385.4:c.949C>T	XP_005272442.1:p.Gln317Ter
XM_011543817.3:c.949C>T	XP_011542119.1:p.Gln317Ter
XM_011543818.2:c.949C>T	XP_011542120.1:p.Gln317Ter
XM_017013312.2:c.949C>T	XP_016868801.1:p.Gln317Ter
NM_001308093.3:c.949C>T MANE Select	NP_001295022.1:p.Gln317Ter
NM_001308094.2:c.328C>T	NP_001295023.1:p.Gln110Ter
NM_001374273.1:c.328C>T	NP_001361202.1:p.Gln110Ter
NM_001374274.1:c.202C>T	NP_001361203.1:p.Gln68Ter
NM_002052.5:c.946C>T	NP_002043.2:p.Gln316Ter