Canonical Allele Identifier: CA182802

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 178696
• ClinVar RCV Id: RCV000155453 ; RCV000888350 ; RCV001007589 ; RCV002444640
• dbSNP Id: rs45592239
• ExAC: 16:2345709 G / A
• gnomAD v2: 16-2345709-G-A
• gnomAD v3: 16-2295708-G-A
• gnomAD v4: 16-2295708-G-A
• MyVariant Identifiers: chr16:g.2345709G>A (hg19) ; chr16:g.2295708G>A (hg38)
• PubMed: PMID:22866751

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2295708G>A , CM000678.2:g.2295708G>A	GRCh38
NC_000016.9:g.2345709G>A , CM000678.1:g.2345709G>A	GRCh37
NC_000016.8:g.2285710G>A	NCBI36
NG_011790.1:g.50039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.2296C>T MANE Select	ENSP00000301732.5:p.Pro766Ser
ENST00000301732.9:c.2296C>T	ENSP00000301732.5:p.Pro766Ser
ENST00000382381.7:c.2122C>T	ENSP00000371818.3:p.Pro708Ser
ENST00000563623.5:n.2859C>T
NM_001089.2:c.2296C>T	NP_001080.2:p.Pro766Ser
NM_001089.3:c.2296C>T MANE Select	NP_001080.2:p.Pro766Ser