Canonical Allele Identifier: CA129024
Gene: GATA6 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.22181546A>C
GRCh37 chr18:g.19761507A>C
Revel Score:
ENST00000269216 (MANE Select) 0.948
ClinVar RCV:
RCV000023128
ClinVar Variation:
30207
dbSNP:
387906813
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22181546A>C , CM000680.2:g.22181546A>C GRCh38
NC_000018.9:g.19761507A>C , CM000680.1:g.19761507A>C GRCh37
NC_000018.8:g.18015505A>C NCBI36
NG_032677.1:g.17104A>C
NG_032677.2:g.17110A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269216.10:c.1396A>C MANE Select ENSP00000269216.3:p.Asn466His
ENST00000269216.7:c.1396A>C ENSP00000269216.3:p.Asn466His
ENST00000581694.1:c.1396A>C ENSP00000462313.1:p.Asn466His
NM_005257.5:c.1396A>C NP_005248.2:p.Asn466His
NM_005257.6:c.1396A>C MANE Select NP_005248.2:p.Asn466His
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