Canonical Allele Identifier: CA129029

Gene: GATA6

Linked Data

• ClinVar Variation Id: 30213
• ClinVar RCV Id: RCV000023135 ; RCV000191918 ; RCV003236769
• dbSNP Id: rs387906818
• ExAC: 18:19761477 C / T
• gnomAD v2: 18-19761477-C-T
• gnomAD v4: 18-22181516-C-T
• COSMIC: COSM4686490
• MyVariant Identifiers: chr18:g.19761477C>T (hg19) ; chr18:g.22181516C>T (hg38)
• PubMed: PMID:22158542 ; PMID:24385578

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22181516C>T , CM000680.2:g.22181516C>T	GRCh38
NC_000018.9:g.19761477C>T , CM000680.1:g.19761477C>T	GRCh37
NC_000018.8:g.18015475C>T	NCBI36
NG_032677.1:g.17074C>T
NG_032677.2:g.17080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269216.10:c.1366C>T MANE Select	ENSP00000269216.3:p.Arg456Cys
ENST00000269216.7:c.1366C>T	ENSP00000269216.3:p.Arg456Cys
ENST00000581694.1:c.1366C>T	ENSP00000462313.1:p.Arg456Cys
NM_005257.5:c.1366C>T	NP_005248.2:p.Arg456Cys
NM_005257.6:c.1366C>T MANE Select	NP_005248.2:p.Arg456Cys