Canonical Allele Identifier: CA7840042

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 2960007
• ClinVar RCV Id: RCV003814767
• dbSNP Id: rs372436392
• ExAC: 16:2328273 C / G
• gnomAD v2: 16-2328273-C-G
• gnomAD v3: 16-2278272-C-G
• gnomAD v4: 16-2278272-C-G
• MyVariant Identifiers: chr16:g.2328273C>G (hg19) ; chr16:g.2278272C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278272C>G , CM000678.2:g.2278272C>G	GRCh38
NC_000016.9:g.2328273C>G , CM000678.1:g.2328273C>G	GRCh37
NC_000016.8:g.2268274C>G	NCBI36
NG_011790.1:g.67475G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4718+16G>C MANE Select	ENSP00000301732.5:n.4718+16G>C
ENST00000301732.9:c.4718+16G>C	ENSP00000301732.5:n.4718+16G>C
ENST00000382381.7:c.4544+16G>C	ENSP00000371818.3:n.4544+16G>C
NM_001089.2:c.4718+16G>C	NP_001080.2:n.4718+16G>C
NM_001089.3:c.4718+16G>C MANE Select	NP_001080.2:n.4718+16G>C