Canonical Allele Identifier: CA394304443
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2854988
ClinVar RCV Id: RCV003699209
MyVariant Identifiers: chr16:g.2327931G>A (hg19) chr16:g.2277930G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277930G>A , CM000678.2:g.2277930G>A GRCh38
NC_000016.9:g.2327931G>A , CM000678.1:g.2327931G>A GRCh37
NC_000016.8:g.2267932G>A NCBI36
NG_011790.1:g.67817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4858C>T MANE Select ENSP00000301732.5:p.Gln1620Ter
ENST00000301732.9:c.4858C>T ENSP00000301732.5:p.Gln1620Ter
ENST00000382381.7:c.4684C>T ENSP00000371818.3:p.Gln1562Ter
NM_001089.2:c.4858C>T NP_001080.2:p.Gln1620Ter
NM_001089.3:c.4858C>T MANE Select NP_001080.2:p.Gln1620Ter
Search 100 bp 5'
Search 100 bp 3'