Canonical Allele Identifier: CA7841786
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2777290
ClinVar RCV Id: RCV003658924
dbSNP Id: rs369060359
ExAC: 16:2376237 C / G
gnomAD v2: 16-2376237-C-G
gnomAD v3: 16-2326236-C-G
gnomAD v4: 16-2326236-C-G
MyVariant Identifiers: chr16:g.2376237C>G (hg19) chr16:g.2326236C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326236C>G , CM000678.2:g.2326236C>G GRCh38
NC_000016.9:g.2376237C>G , CM000678.1:g.2376237C>G GRCh37
NC_000016.8:g.2316238C>G NCBI36
NG_011790.1:g.19511G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.93G>C MANE Select ENSP00000301732.5:p.Leu31=
ENST00000301732.9:c.93G>C ENSP00000301732.5:p.Leu31=
ENST00000382381.7:c.93G>C ENSP00000371818.3:p.Leu31=
ENST00000563623.5:n.656G>C
ENST00000567910.1:c.93G>C ENSP00000454397.1:p.Leu31=
NM_001089.2:c.93G>C NP_001080.2:p.Leu31=
NM_001089.3:c.93G>C MANE Select NP_001080.2:p.Leu31=
Search 100 bp 5'
Search 100 bp 3'