Canonical Allele Identifier: CA172069971

Gene: GATA4

Linked Data

• dbSNP Id: rs895567257
• gnomAD v2: 8-11560970-C-T
• gnomAD v3: 8-11703461-C-T
• gnomAD v4: 8-11703461-C-T
• MyVariant Identifiers: chr8:g.11560970C>T (hg19) ; chr8:g.11703461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11703461C>T , CM000670.2:g.11703461C>T	GRCh38
NC_000008.10:g.11560970C>T , CM000670.1:g.11560970C>T	GRCh37
NC_000008.9:g.11598379C>T	NCBI36
NG_008177.2:g.31543C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526974.1:c.-458+2683C>T	ENSP00000473598.1:n.-458+2683C>T
ENST00000528712.5:c.-6+2683C>T	ENSP00000435043.1:n.-6+2683C>T
ENST00000532977.1:c.-458+2683C>T	ENSP00000473671.1:n.-458+2683C>T
NM_001308094.1:c.-6+2683C>T	NP_001295023.1:n.-6+2683C>T
XM_005272386.1:c.-458+2683C>T	XP_005272443.1:n.-458+2683C>T
XM_006716248.1:c.-458+2683C>T	XP_006716311.1:n.-458+2683C>T
XM_011543817.1:c.-458+2683C>T	XP_011542119.1:n.-458+2683C>T
XM_011543818.1:c.-458+3004C>T	XP_011542120.1:n.-458+3004C>T
XM_011543817.3:c.-458+2683C>T	XP_011542119.1:n.-458+2683C>T
XM_011543818.2:c.-458+3004C>T	XP_011542120.1:n.-458+3004C>T
XM_017013312.2:c.-1301C>T	XP_016868801.1:n.-1301C>T
NM_001308094.2:c.-6+2683C>T	NP_001295023.1:n.-6+2683C>T