Canonical Allele Identifier: CA7840002
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2777582
ClinVar RCV Id: RCV003659093
dbSNP Id: rs766690607
ExAC: 16:2327932 C / T
gnomAD v2: 16-2327932-C-T
gnomAD v4: 16-2277931-C-T
MyVariant Identifiers: chr16:g.2327932C>T (hg19) chr16:g.2277931C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277931C>T , CM000678.2:g.2277931C>T GRCh38
NC_000016.9:g.2327932C>T , CM000678.1:g.2327932C>T GRCh37
NC_000016.8:g.2267933C>T NCBI36
NG_011790.1:g.67816G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4857G>A MANE Select ENSP00000301732.5:p.Gly1619=
ENST00000301732.9:c.4857G>A ENSP00000301732.5:p.Gly1619=
ENST00000382381.7:c.4683G>A ENSP00000371818.3:p.Gly1561=
NM_001089.2:c.4857G>A NP_001080.2:p.Gly1619=
NM_001089.3:c.4857G>A MANE Select NP_001080.2:p.Gly1619=
Search 100 bp 5'
Search 100 bp 3'