Canonical Allele Identifier: CA175149

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 162676
• ClinVar RCV Id: RCV000150116 ; RCV002453478 ; RCV000989468
• dbSNP Id: rs145087575
• ExAC: 16:2374485 C / T
• gnomAD v2: 16-2374485-C-T
• gnomAD v3: 16-2324484-C-T
• gnomAD v4: 16-2324484-C-T
• COSMIC: COSM1376778
• MyVariant Identifiers: chr16:g.2374485C>T (hg19) ; chr16:g.2324484C>T (hg38)
• PubMed: PMID:20371530

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2324484C>T , CM000678.2:g.2324484C>T	GRCh38
NC_000016.9:g.2374485C>T , CM000678.1:g.2374485C>T	GRCh37
NC_000016.8:g.2314486C>T	NCBI36
NG_011790.1:g.21263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.367G>A MANE Select	ENSP00000301732.5:p.Asp123Asn
ENST00000301732.9:c.367G>A	ENSP00000301732.5:p.Asp123Asn
ENST00000382381.7:c.367G>A	ENSP00000371818.3:p.Asp123Asn
ENST00000563623.5:n.930G>A
ENST00000567910.1:c.367G>A	ENSP00000454397.1:p.Asp123Asn
NM_001089.2:c.367G>A	NP_001080.2:p.Asp123Asn
NM_001089.3:c.367G>A MANE Select	NP_001080.2:p.Asp123Asn