Canonical Allele Identifier: CA7840753
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2968017
ClinVar RCV Id: RCV003821143
dbSNP Id: rs772204940
ExAC: 16:2339465 C / T
gnomAD v2: 16-2339465-C-T
gnomAD v3: 16-2289464-C-T
gnomAD v4: 16-2289464-C-T
MyVariant Identifiers: chr16:g.2339465C>T (hg19) chr16:g.2289464C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289464C>T , CM000678.2:g.2289464C>T GRCh38
NC_000016.9:g.2339465C>T , CM000678.1:g.2339465C>T GRCh37
NC_000016.8:g.2279466C>T NCBI36
NG_011790.1:g.56283G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2670G>A MANE Select ENSP00000301732.5:p.Glu890=
ENST00000301732.9:c.2670G>A ENSP00000301732.5:p.Glu890=
ENST00000382381.7:c.2496G>A ENSP00000371818.3:p.Glu832=
ENST00000563623.5:n.3233G>A
NM_001089.2:c.2670G>A NP_001080.2:p.Glu890=
NM_001089.3:c.2670G>A MANE Select NP_001080.2:p.Glu890=
Search 100 bp 5'
Search 100 bp 3'