Canonical Allele Identifier: CA394305362
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1395394799
gnomAD v3: 16-2278286-A-G
gnomAD v4: 16-2278286-A-G
MyVariant Identifiers: chr16:g.2328287A>G (hg19) chr16:g.2278286A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278286A>G , CM000678.2:g.2278286A>G GRCh38
NC_000016.9:g.2328287A>G , CM000678.1:g.2328287A>G GRCh37
NC_000016.8:g.2268288A>G NCBI36
NG_011790.1:g.67461T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+2T>C MANE Select ENSP00000301732.5:n.4718+2T>C
ENST00000301732.9:c.4718+2T>C ENSP00000301732.5:n.4718+2T>C
ENST00000382381.7:c.4544+2T>C ENSP00000371818.3:n.4544+2T>C
NM_001089.2:c.4718+2T>C NP_001080.2:n.4718+2T>C
NM_001089.3:c.4718+2T>C MANE Select NP_001080.2:n.4718+2T>C
Search 100 bp 5'
Search 100 bp 3'