Canonical Allele Identifier: CA172069911

Gene: GATA4

Linked Data

• dbSNP Id: rs112718516
• gnomAD v2: 8-11560941-T-C
• gnomAD v3: 8-11703432-T-C
• gnomAD v4: 8-11703432-T-C
• MyVariant Identifiers: chr8:g.11560941T>C (hg19) ; chr8:g.11703432T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11703432T>C , CM000670.2:g.11703432T>C	GRCh38
NC_000008.10:g.11560941T>C , CM000670.1:g.11560941T>C	GRCh37
NC_000008.9:g.11598350T>C	NCBI36
NG_008177.2:g.31514T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526974.1:c.-458+2654T>C	ENSP00000473598.1:n.-458+2654T>C
ENST00000528712.5:c.-6+2654T>C	ENSP00000435043.1:n.-6+2654T>C
ENST00000532977.1:c.-458+2654T>C	ENSP00000473671.1:n.-458+2654T>C
NM_001308094.1:c.-6+2654T>C	NP_001295023.1:n.-6+2654T>C
XM_005272386.1:c.-458+2654T>C	XP_005272443.1:n.-458+2654T>C
XM_006716248.1:c.-458+2654T>C	XP_006716311.1:n.-458+2654T>C
XM_011543817.1:c.-458+2654T>C	XP_011542119.1:n.-458+2654T>C
XM_011543818.1:c.-458+2975T>C	XP_011542120.1:n.-458+2975T>C
XM_011543817.3:c.-458+2654T>C	XP_011542119.1:n.-458+2654T>C
XM_011543818.2:c.-458+2975T>C	XP_011542120.1:n.-458+2975T>C
NM_001308094.2:c.-6+2654T>C	NP_001295023.1:n.-6+2654T>C