Canonical Allele Identifier: CA7840945

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318496
• ClinVar RCV Id: RCV000299658 ; RCV000927189 ; RCV002418169
• dbSNP Id: rs147341939
• ExAC: 16:2347474 G / A
• gnomAD v2: 16-2347474-G-A
• gnomAD v3: 16-2297473-G-A
• gnomAD v4: 16-2297473-G-A
• MyVariant Identifiers: chr16:g.2347474G>A (hg19) ; chr16:g.2297473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2297473G>A , CM000678.2:g.2297473G>A	GRCh38
NC_000016.9:g.2347474G>A , CM000678.1:g.2347474G>A	GRCh37
NC_000016.8:g.2287475G>A	NCBI36
NG_011790.1:g.48274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.2119C>T MANE Select	ENSP00000301732.5:p.Leu707Phe
ENST00000301732.9:c.2119C>T	ENSP00000301732.5:p.Leu707Phe
ENST00000382381.7:c.1945C>T	ENSP00000371818.3:p.Leu649Phe
ENST00000563623.5:n.2682C>T
NM_001089.2:c.2119C>T	NP_001080.2:p.Leu707Phe
NM_001089.3:c.2119C>T MANE Select	NP_001080.2:p.Leu707Phe