Canonical Allele Identifier: CA370309734

Gene: GATA4

Linked Data

• ClinVar Variation Id: 435285
• ClinVar RCV Id: RCV001857102
• dbSNP Id: rs1425061772
• gnomAD v2: 8-11566312-C-T
• gnomAD v4: 8-11708803-C-T
• MyVariant Identifiers: chr8:g.11566312C>T (hg19) ; chr8:g.11708803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708803C>T , CM000670.2:g.11708803C>T	GRCh38
NC_000008.10:g.11566312C>T , CM000670.1:g.11566312C>T	GRCh37
NC_000008.9:g.11603721C>T	NCBI36
NG_008177.2:g.36885C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.491C>T	ENSP00000482268.2:p.Ala164Val
ENST00000532059.6:c.491C>T MANE Select	ENSP00000435712.1:p.Ala164Val
ENST00000335135.8:c.491C>T	ENSP00000334458.4:p.Ala164Val
ENST00000526716.5:c.-6+4499C>T	ENSP00000435347.1:n.-6+4499C>T
ENST00000528712.5:c.-6+8025C>T	ENSP00000435043.1:n.-6+8025C>T
ENST00000532059.5:c.491C>T	ENSP00000435712.1:p.Ala164Val
ENST00000622443.2:c.488C>T	ENSP00000482268.1:p.Ala163Val
NM_001308093.1:c.491C>T	NP_001295022.1:p.Ala164Val
NM_001308094.1:c.-6+8025C>T	NP_001295023.1:n.-6+8025C>T
NM_002052.3:c.491C>T	NP_002043.2:p.Ala164Val
NM_002052.4:c.491C>T	NP_002043.2:p.Ala164Val
XM_005272385.3:c.491C>T	XP_005272442.1:p.Ala164Val
XM_005272386.1:c.491C>T	XP_005272443.1:p.Ala164Val
XM_006716248.1:c.491C>T	XP_006716311.1:p.Ala164Val
XM_011543817.1:c.491C>T	XP_011542119.1:p.Ala164Val
XM_011543818.1:c.491C>T	XP_011542120.1:p.Ala164Val
XM_005272385.4:c.491C>T	XP_005272442.1:p.Ala164Val
XM_011543817.3:c.491C>T	XP_011542119.1:p.Ala164Val
XM_011543818.2:c.491C>T	XP_011542120.1:p.Ala164Val
XM_017013312.2:c.491C>T	XP_016868801.1:p.Ala164Val
NM_001308093.3:c.491C>T MANE Select	NP_001295022.1:p.Ala164Val
NM_001308094.2:c.-6+8025C>T	NP_001295023.1:n.-6+8025C>T
NM_001374273.1:c.-3+4499C>T	NP_001361202.1:n.-3+4499C>T
NM_001374274.1:c.-3+789C>T	NP_001361203.1:n.-3+789C>T
NM_002052.5:c.491C>T	NP_002043.2:p.Ala164Val