Canonical Allele Identifier: CA2631191257

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 2749719
• ClinVar RCV Id: RCV003568574
• gnomAD v4: 16-2326403-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326403C>A , CM000678.2:g.2326403C>A	GRCh38
NC_000016.9:g.2376404C>A , CM000678.1:g.2376404C>A	GRCh37
NC_000016.8:g.2316405C>A	NCBI36
NG_011790.1:g.19344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.54+10G>T MANE Select	ENSP00000301732.5:n.54+10G>T
ENST00000301732.9:c.54+10G>T	ENSP00000301732.5:n.54+10G>T
ENST00000382381.7:c.54+10G>T	ENSP00000371818.3:n.54+10G>T
ENST00000563623.5:n.617+10G>T
ENST00000567910.1:c.54+10G>T	ENSP00000454397.1:n.54+10G>T
NM_001089.2:c.54+10G>T	NP_001080.2:n.54+10G>T
NM_001089.3:c.54+10G>T MANE Select	NP_001080.2:n.54+10G>T