Canonical Allele Identifier: CA175146

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 162674
• ClinVar RCV Id: RCV000150114 ; RCV001117778 ; RCV001775635 ; RCV002415634 ; RCV003398796
• dbSNP Id: rs148671332
• ExAC: 16:2347468 G / A
• gnomAD v2: 16-2347468-G-A
• gnomAD v3: 16-2297467-G-A
• gnomAD v4: 16-2297467-G-A
• MyVariant Identifiers: chr16:g.2347468G>A (hg19) ; chr16:g.2297467G>A (hg38)
• PubMed: PMID:22068586

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2297467G>A , CM000678.2:g.2297467G>A	GRCh38
NC_000016.9:g.2347468G>A , CM000678.1:g.2347468G>A	GRCh37
NC_000016.8:g.2287469G>A	NCBI36
NG_011790.1:g.48280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.2125C>T MANE Select	ENSP00000301732.5:p.Arg709Trp
ENST00000301732.9:c.2125C>T	ENSP00000301732.5:p.Arg709Trp
ENST00000382381.7:c.1951C>T	ENSP00000371818.3:p.Arg651Trp
ENST00000563623.5:n.2688C>T
NM_001089.2:c.2125C>T	NP_001080.2:p.Arg709Trp
NM_001089.3:c.2125C>T MANE Select	NP_001080.2:p.Arg709Trp