Canonical Allele Identifier: CA12752522

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1271481
• ClinVar RCV Id: RCV001681530
• dbSNP Id: rs13273672
• gnomAD v2: 8-11612381-T-C
• gnomAD v3: 8-11754872-T-C
• gnomAD v4: 8-11754872-T-C
• MyVariant Identifiers: chr8:g.11612381T>C (hg19) ; chr8:g.11754872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11754872T>C , CM000670.2:g.11754872T>C	GRCh38
NC_000008.10:g.11612381T>C , CM000670.1:g.11612381T>C	GRCh37
NC_000008.9:g.11649790T>C	NCBI36
NG_008177.2:g.82954T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.910-174T>C	ENSP00000482268.2:n.910-174T>C
ENST00000532059.6:c.913-174T>C MANE Select	ENSP00000435712.1:n.913-174T>C
ENST00000335135.8:c.910-174T>C	ENSP00000334458.4:n.910-174T>C
ENST00000526716.5:c.292-174T>C	ENSP00000435347.1:n.292-174T>C
ENST00000528712.5:c.292-174T>C	ENSP00000435043.1:n.292-174T>C
ENST00000532059.5:c.913-174T>C	ENSP00000435712.1:n.913-174T>C
ENST00000622443.2:c.907-174T>C	ENSP00000482268.1:n.907-174T>C
NM_001308093.1:c.913-174T>C	NP_001295022.1:n.913-174T>C
NM_001308094.1:c.292-174T>C	NP_001295023.1:n.292-174T>C
NM_002052.3:c.910-174T>C	NP_002043.2:n.910-174T>C
NM_002052.4:c.910-174T>C	NP_002043.2:n.910-174T>C
XM_005272385.3:c.913-174T>C	XP_005272442.1:n.913-174T>C
XM_005272386.1:c.913-174T>C	XP_005272443.1:n.913-174T>C
XM_006716248.1:c.913-174T>C	XP_006716311.1:n.913-174T>C
XM_011543817.1:c.913-174T>C	XP_011542119.1:n.913-174T>C
XM_011543818.1:c.913-174T>C	XP_011542120.1:n.913-174T>C
XM_005272385.4:c.913-174T>C	XP_005272442.1:n.913-174T>C
XM_011543817.3:c.913-174T>C	XP_011542119.1:n.913-174T>C
XM_011543818.2:c.913-174T>C	XP_011542120.1:n.913-174T>C
XM_017013312.2:c.913-174T>C	XP_016868801.1:n.913-174T>C
NM_001308093.3:c.913-174T>C MANE Select	NP_001295022.1:n.913-174T>C
NM_001308094.2:c.292-174T>C	NP_001295023.1:n.292-174T>C
NM_001374273.1:c.292-174T>C	NP_001361202.1:n.292-174T>C
NM_001374274.1:c.166-174T>C	NP_001361203.1:n.166-174T>C
NM_002052.5:c.910-174T>C	NP_002043.2:n.910-174T>C