Canonical Allele Identifier: CA7839983

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 2958169
• ClinVar RCV Id: RCV003814417
• dbSNP Id: rs555551542
• ExAC: 16:2327867 G / T
• gnomAD v2: 16-2327867-G-T
• gnomAD v3: 16-2277866-G-T
• gnomAD v4: 16-2277866-G-T
• MyVariant Identifiers: chr16:g.2327867G>T (hg19) ; chr16:g.2277866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2277866G>T , CM000678.2:g.2277866G>T	GRCh38
NC_000016.9:g.2327867G>T , CM000678.1:g.2327867G>T	GRCh37
NC_000016.8:g.2267868G>T	NCBI36
NG_011790.1:g.67881C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4909+13C>A MANE Select	ENSP00000301732.5:n.4909+13C>A
ENST00000301732.9:c.4909+13C>A	ENSP00000301732.5:n.4909+13C>A
ENST00000382381.7:c.4735+13C>A	ENSP00000371818.3:n.4735+13C>A
NM_001089.2:c.4909+13C>A	NP_001080.2:n.4909+13C>A
NM_001089.3:c.4909+13C>A MANE Select	NP_001080.2:n.4909+13C>A