Canonical Allele Identifier: CA7841496

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 227155
• ClinVar RCV Id: RCV000219053 ; RCV000514255 ; RCV000850152 ; RCV002444851
• dbSNP Id: rs117603931
• ExAC: 16:2369592 C / T
• gnomAD v2: 16-2369592-C-T
• gnomAD v3: 16-2319591-C-T
• gnomAD v4: 16-2319591-C-T
• MyVariant Identifiers: chr16:g.2369592C>T (hg19) ; chr16:g.2319591C>T (hg38)
• PubMed: PMID:16728712 ; PMID:22304854 ; PMID:22995991

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2319591C>T , CM000678.2:g.2319591C>T	GRCh38
NC_000016.9:g.2369592C>T , CM000678.1:g.2369592C>T	GRCh37
NC_000016.8:g.2309593C>T	NCBI36
NG_011790.1:g.26156G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.863G>A MANE Select	ENSP00000301732.5:p.Arg288Lys
ENST00000301732.9:c.863G>A	ENSP00000301732.5:p.Arg288Lys
ENST00000382381.7:c.863G>A	ENSP00000371818.3:p.Arg288Lys
ENST00000563623.5:n.1426G>A
NM_001089.2:c.863G>A	NP_001080.2:p.Arg288Lys
NM_001089.3:c.863G>A MANE Select	NP_001080.2:p.Arg288Lys