Canonical Allele Identifier: CA7840579
Gene: ABCA3 HGNC NCBI
COSMIC:
COSM968745
MyVariant.info:
GRCh38 chr16:g.2286765G>A
GRCh37 chr16:g.2336766G>A
gnomAD v2:
16:2336766 G / A
gnomAD v3:
16:2286765 G / A
gnomAD v4:
chr16-2286765-G-A
Joint Max Group AF 0.00053473 (SAS)
Genomes Max Group AF 0.00007279 (SAS)
Exomes Max Group AF 0.0005441 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2286765G>A , CM000678.2:g.2286765G>A GRCh38
NC_000016.9:g.2336766G>A , CM000678.1:g.2336766G>A GRCh37
NC_000016.8:g.2276767G>A NCBI36
NG_011790.1:g.58982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3207C>T MANE Select ENSP00000301732.5:p.His1069=
ENST00000301732.9:c.3207C>T ENSP00000301732.5:p.His1069=
ENST00000382381.7:c.3033C>T ENSP00000371818.3:p.His1011=
NM_001089.2:c.3207C>T NP_001080.2:p.His1069=
NM_001089.3:c.3207C>T MANE Select NP_001080.2:p.His1069=
Search 100 bp 5'
Search 100 bp 3'