Canonical Allele Identifier: CA248633

Gene: GATA6

Linked Data

• ClinVar Variation Id: 30208
• ClinVar RCV Id: RCV000023129 ; RCV000650081 ; RCV001174441 ; RCV001588823
• dbSNP Id: rs387906814
• ExAC: 18:19751697 C / G
• gnomAD v2: 18-19751697-C-G
• gnomAD v3: 18-22171736-C-G
• gnomAD v4: 18-22171736-C-G
• MyVariant Identifiers: chr18:g.19751697C>G (hg19) ; chr18:g.22171736C>G (hg38)
• PubMed: PMID:20581743

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22171736C>G , CM000680.2:g.22171736C>G	GRCh38
NC_000018.9:g.19751697C>G , CM000680.1:g.19751697C>G	GRCh37
NC_000018.8:g.18005695C>G	NCBI36
NG_032677.1:g.7294C>G
NG_032677.2:g.7300C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269216.10:c.592C>G MANE Select	ENSP00000269216.3:p.Leu198Val
ENST00000269216.7:c.592C>G	ENSP00000269216.3:p.Leu198Val
ENST00000581694.1:c.592C>G	ENSP00000462313.1:p.Leu198Val
NM_005257.5:c.592C>G	NP_005248.2:p.Leu198Val
NM_005257.6:c.592C>G MANE Select	NP_005248.2:p.Leu198Val