Canonical Allele Identifier: CA7841503

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 228421
• ClinVar RCV Id: RCV000219325 ; RCV000308878 ; RCV001477709 ; RCV002433932 ; RCV003448905
• dbSNP Id: rs143008553
• ExAC: 16:2369616 C / T
• gnomAD v2: 16-2369616-C-T
• gnomAD v3: 16-2319615-C-T
• gnomAD v4: 16-2319615-C-T
• MyVariant Identifiers: chr16:g.2369616C>T (hg19) ; chr16:g.2369616_2369617delinsTG (hg19) ; chr16:g.2319615C>T (hg38) ; chr16:g.2319615_2319616delinsTG (hg38)
• PubMed: PMID:20656946

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2319615C>T , CM000678.2:g.2319615C>T	GRCh38
NC_000016.9:g.2369616C>T , CM000678.1:g.2369616C>T	GRCh37
NC_000016.8:g.2309617C>T	NCBI36
NG_011790.1:g.26132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.839G>A MANE Select	ENSP00000301732.5:p.Arg280His
ENST00000301732.9:c.839G>A	ENSP00000301732.5:p.Arg280His
ENST00000382381.7:c.839G>A	ENSP00000371818.3:p.Arg280His
ENST00000563623.5:n.1402G>A
NM_001089.2:c.839G>A	NP_001080.2:p.Arg280His
NM_001089.3:c.839G>A MANE Select	NP_001080.2:p.Arg280His