Canonical Allele Identifier: CA493092406
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2781781
ClinVar RCV Id: RCV003662054
dbSNP Id: rs2093649715
gnomAD v3: 16-2278299-G-A
gnomAD v4: 16-2278299-G-A
MyVariant Identifiers: chr16:g.2328300G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278299G>A , CM000678.2:g.2278299G>A GRCh38
NC_000016.9:g.2328300G>A , CM000678.1:g.2328300G>A GRCh37
NC_000016.8:g.2268301G>A NCBI36
NG_011790.1:g.67448C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4707C>T MANE Select ENSP00000301732.5:p.Ile1569=
ENST00000301732.9:c.4707C>T ENSP00000301732.5:p.Ile1569=
ENST00000382381.7:c.4533C>T ENSP00000371818.3:p.Ile1511=
ENST00000566200.1:n.1228C>T
NM_001089.2:c.4707C>T NP_001080.2:p.Ile1569=
NM_001089.3:c.4707C>T MANE Select NP_001080.2:p.Ile1569=
Search 100 bp 5'
Search 100 bp 3'