Canonical Allele Identifier: CA7840873

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318489
• ClinVar RCV Id: RCV000345051 ; RCV000732937 ; RCV002429269
• dbSNP Id: rs143929832
• ExAC: 16:2345696 G / A
• gnomAD v2: 16-2345696-G-A
• gnomAD v3: 16-2295695-G-A
• gnomAD v4: 16-2295695-G-A
• MyVariant Identifiers: chr16:g.2345696G>A (hg19) ; chr16:g.2295695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2295695G>A , CM000678.2:g.2295695G>A	GRCh38
NC_000016.9:g.2345696G>A , CM000678.1:g.2345696G>A	GRCh37
NC_000016.8:g.2285697G>A	NCBI36
NG_011790.1:g.50052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.2309C>T MANE Select	ENSP00000301732.5:p.Pro770Leu
ENST00000301732.9:c.2309C>T	ENSP00000301732.5:p.Pro770Leu
ENST00000382381.7:c.2135C>T	ENSP00000371818.3:p.Pro712Leu
ENST00000563623.5:n.2872C>T
NM_001089.2:c.2309C>T	NP_001080.2:p.Pro770Leu
NM_001089.3:c.2309C>T MANE Select	NP_001080.2:p.Pro770Leu