Canonical Allele Identifier: CA394351658
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736315
ClinVar RCV Id: RCV003559901
dbSNP Id: rs1278044377
gnomAD v4: 16-2326013-G-A
COSMIC: COSM968854
MyVariant Identifiers: chr16:g.2376014G>A (hg19) chr16:g.2326013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326013G>A , CM000678.2:g.2326013G>A GRCh38
NC_000016.9:g.2376014G>A , CM000678.1:g.2376014G>A GRCh37
NC_000016.8:g.2316015G>A NCBI36
NG_011790.1:g.19734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.316C>T MANE Select ENSP00000301732.5:p.Arg106Ter
ENST00000301732.9:c.316C>T ENSP00000301732.5:p.Arg106Ter
ENST00000382381.7:c.316C>T ENSP00000371818.3:p.Arg106Ter
ENST00000563623.5:n.879C>T
ENST00000567910.1:c.316C>T ENSP00000454397.1:p.Arg106Ter
NM_001089.2:c.316C>T NP_001080.2:p.Arg106Ter
NM_001089.3:c.316C>T MANE Select NP_001080.2:p.Arg106Ter
Search 100 bp 5'
Search 100 bp 3'