Canonical Allele Identifier: CA7841779

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 228321
• ClinVar RCV Id: RCV000221771 ; RCV001804948 ; RCV002381741 ; RCV003556277
• dbSNP Id: rs754714105
• ExAC: 16:2376202 C / T
• gnomAD v2: 16-2376202-C-T
• gnomAD v3: 16-2326201-C-T
• gnomAD v4: 16-2326201-C-T
• MyVariant Identifiers: chr16:g.2376202C>T (hg19) ; chr16:g.2326201C>T (hg38)
• PubMed: PMID:16641205 ; PMID:16728712 ; PMID:18024538 ; PMID:22337229 ; PMID:24871971

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326201C>T , CM000678.2:g.2326201C>T	GRCh38
NC_000016.9:g.2376202C>T , CM000678.1:g.2376202C>T	GRCh37
NC_000016.8:g.2316203C>T	NCBI36
NG_011790.1:g.19546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.128G>A MANE Select	ENSP00000301732.5:p.Arg43His
ENST00000301732.9:c.128G>A	ENSP00000301732.5:p.Arg43His
ENST00000382381.7:c.128G>A	ENSP00000371818.3:p.Arg43His
ENST00000563623.5:n.691G>A
ENST00000567910.1:c.128G>A	ENSP00000454397.1:p.Arg43His
NM_001089.2:c.128G>A	NP_001080.2:p.Arg43His
NM_001089.3:c.128G>A MANE Select	NP_001080.2:p.Arg43His