Canonical Allele Identifier: CA14275030
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1235998
ClinVar RCV Id: RCV001619596
dbSNP Id: rs150929
gnomAD v2: 16-2328650-G-T
gnomAD v3: 16-2278649-G-T
gnomAD v4: 16-2278649-G-T
MyVariant Identifiers: chr16:g.2328650G>T (hg19) chr16:g.2278649G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278649G>T , CM000678.2:g.2278649G>T GRCh38
NC_000016.9:g.2328650G>T , CM000678.1:g.2328650G>T GRCh37
NC_000016.8:g.2268651G>T NCBI36
NG_011790.1:g.67098C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-191C>A MANE Select ENSP00000301732.5:n.4548-191C>A
ENST00000301732.9:c.4548-191C>A ENSP00000301732.5:n.4548-191C>A
ENST00000382381.7:c.4374-191C>A ENSP00000371818.3:n.4374-191C>A
ENST00000566200.1:n.1069-191C>A
NM_001089.2:c.4548-191C>A NP_001080.2:n.4548-191C>A
NM_001089.3:c.4548-191C>A MANE Select NP_001080.2:n.4548-191C>A
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