Canonical Allele Identifier: CA276790679

Gene: ABCA3

Linked Data

• dbSNP Id: rs77259892
• gnomAD v2: 16-2387316-T-G
• gnomAD v3: 16-2337315-T-G
• gnomAD v4: 16-2337315-T-G
• MyVariant Identifiers: chr16:g.2387316T>G (hg19) ; chr16:g.2337315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337315T>G , CM000678.2:g.2337315T>G	GRCh38
NC_000016.9:g.2387316T>G , CM000678.1:g.2387316T>G	GRCh37
NC_000016.8:g.2327317T>G	NCBI36
NG_011790.1:g.8432A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.-539+3258A>C MANE Select	ENSP00000301732.5:n.-539+3258A>C
ENST00000301732.9:c.-539+3258A>C	ENSP00000301732.5:n.-539+3258A>C
ENST00000382381.7:c.-539+3258A>C	ENSP00000371818.3:n.-539+3258A>C
ENST00000563623.5:n.25+3258A>C
NM_001089.2:c.-539+3258A>C	NP_001080.2:n.-539+3258A>C
NM_001089.3:c.-539+3258A>C MANE Select	NP_001080.2:n.-539+3258A>C