Canonical Allele Identifier: CA7840217

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318399
• ClinVar RCV Id: RCV000346526 ; RCV002520993 ; RCV002328831
• dbSNP Id: rs114420154
• ExAC: 16:2331236 A / G
• gnomAD v2: 16-2331236-A-G
• gnomAD v3: 16-2281235-A-G
• gnomAD v4: 16-2281235-A-G
• MyVariant Identifiers: chr16:g.2331236A>G (hg19) ; chr16:g.2281235A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2281235A>G , CM000678.2:g.2281235A>G	GRCh38
NC_000016.9:g.2331236A>G , CM000678.1:g.2331236A>G	GRCh37
NC_000016.8:g.2271237A>G	NCBI36
NG_011790.1:g.64512T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4165-14T>C MANE Select	ENSP00000301732.5:n.4165-14T>C
ENST00000301732.9:c.4165-14T>C	ENSP00000301732.5:n.4165-14T>C
ENST00000382381.7:c.3991-14T>C	ENSP00000371818.3:n.3991-14T>C
ENST00000566200.1:n.686-14T>C
NM_001089.2:c.4165-14T>C	NP_001080.2:n.4165-14T>C
NM_001089.3:c.4165-14T>C MANE Select	NP_001080.2:n.4165-14T>C