Canonical Allele Identifier: CA8909066

Gene: GATA6

Linked Data

• ClinVar Variation Id: 412726
• ClinVar RCV Id: RCV000470809 ; RCV001764455 ; RCV003224291 ; RCV002525630
• dbSNP Id: rs146243018
• ExAC: 18:19780661 C / G
• gnomAD v2: 18-19780661-C-G
• gnomAD v3: 18-22200698-C-G
• gnomAD v4: 18-22200698-C-G
• MyVariant Identifiers: chr18:g.19780661C>G (hg19) ; chr18:g.22200698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22200698C>G , CM000680.2:g.22200698C>G	GRCh38
NC_000018.9:g.19780661C>G , CM000680.1:g.19780661C>G	GRCh37
NC_000018.8:g.18034659C>G	NCBI36
NG_032677.1:g.36258C>G
NG_032677.2:g.36262C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269216.10:c.1663C>G MANE Select	ENSP00000269216.3:p.Pro555Ala
ENST00000269216.7:c.1663C>G	ENSP00000269216.3:p.Pro555Ala
ENST00000581694.1:c.1663C>G	ENSP00000462313.1:p.Pro555Ala
NM_005257.5:c.1663C>G	NP_005248.2:p.Pro555Ala
NM_005257.6:c.1663C>G MANE Select	NP_005248.2:p.Pro555Ala