Canonical Allele Identifier: CA276820662
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs944726603
gnomAD v2: 16-2328576-C-G
gnomAD v3: 16-2278575-C-G
gnomAD v4: 16-2278575-C-G
MyVariant Identifiers: chr16:g.2328576C>G (hg19) chr16:g.2278575C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278575C>G , CM000678.2:g.2278575C>G GRCh38
NC_000016.9:g.2328576C>G , CM000678.1:g.2328576C>G GRCh37
NC_000016.8:g.2268577C>G NCBI36
NG_011790.1:g.67172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-117G>C MANE Select ENSP00000301732.5:n.4548-117G>C
ENST00000301732.9:c.4548-117G>C ENSP00000301732.5:n.4548-117G>C
ENST00000382381.7:c.4374-117G>C ENSP00000371818.3:n.4374-117G>C
ENST00000566200.1:n.1069-117G>C
NM_001089.2:c.4548-117G>C NP_001080.2:n.4548-117G>C
NM_001089.3:c.4548-117G>C MANE Select NP_001080.2:n.4548-117G>C
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