Canonical Allele Identifier: CA172074942

Gene: GATA4

Linked Data

• dbSNP Id: rs540578824
• gnomAD v3: 8-11708800-C-T
• gnomAD v4: 8-11708800-C-T
• MyVariant Identifiers: chr8:g.11566309C>T (hg19) ; chr8:g.11708800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708800C>T , CM000670.2:g.11708800C>T	GRCh38
NC_000008.10:g.11566309C>T , CM000670.1:g.11566309C>T	GRCh37
NC_000008.9:g.11603718C>T	NCBI36
NG_008177.2:g.36882C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.488C>T	ENSP00000482268.2:p.Pro163Leu
ENST00000532059.6:c.488C>T MANE Select	ENSP00000435712.1:p.Pro163Leu
ENST00000335135.8:c.488C>T	ENSP00000334458.4:p.Pro163Leu
ENST00000526716.5:c.-6+4496C>T	ENSP00000435347.1:n.-6+4496C>T
ENST00000528712.5:c.-6+8022C>T	ENSP00000435043.1:n.-6+8022C>T
ENST00000532059.5:c.488C>T	ENSP00000435712.1:p.Pro163Leu
ENST00000622443.2:c.485C>T	ENSP00000482268.1:p.Pro162Leu
NM_001308093.1:c.488C>T	NP_001295022.1:p.Pro163Leu
NM_001308094.1:c.-6+8022C>T	NP_001295023.1:n.-6+8022C>T
NM_002052.3:c.488C>T	NP_002043.2:p.Pro163Leu
NM_002052.4:c.488C>T	NP_002043.2:p.Pro163Leu
XM_005272385.3:c.488C>T	XP_005272442.1:p.Pro163Leu
XM_005272386.1:c.488C>T	XP_005272443.1:p.Pro163Leu
XM_006716248.1:c.488C>T	XP_006716311.1:p.Pro163Leu
XM_011543817.1:c.488C>T	XP_011542119.1:p.Pro163Leu
XM_011543818.1:c.488C>T	XP_011542120.1:p.Pro163Leu
XM_005272385.4:c.488C>T	XP_005272442.1:p.Pro163Leu
XM_011543817.3:c.488C>T	XP_011542119.1:p.Pro163Leu
XM_011543818.2:c.488C>T	XP_011542120.1:p.Pro163Leu
XM_017013312.2:c.488C>T	XP_016868801.1:p.Pro163Leu
NM_001308093.3:c.488C>T MANE Select	NP_001295022.1:p.Pro163Leu
NM_001308094.2:c.-6+8022C>T	NP_001295023.1:n.-6+8022C>T
NM_001374273.1:c.-3+4496C>T	NP_001361202.1:n.-3+4496C>T
NM_001374274.1:c.-3+786C>T	NP_001361203.1:n.-3+786C>T
NM_002052.5:c.488C>T	NP_002043.2:p.Pro163Leu