Canonical Allele Identifier: CA394324683
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1567340152
gnomAD v2: 16-2339461-G-A
gnomAD v4: 16-2289460-G-A
MyVariant Identifiers: chr16:g.2339461G>A (hg19) chr16:g.2339461_2339464delinsACTC (hg19) chr16:g.2289460G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289460G>A , CM000678.2:g.2289460G>A GRCh38
NC_000016.9:g.2339461G>A , CM000678.1:g.2339461G>A GRCh37
NC_000016.8:g.2279462G>A NCBI36
NG_011790.1:g.56287C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2674C>T MANE Select ENSP00000301732.5:p.Arg892Cys
ENST00000301732.9:c.2674C>T ENSP00000301732.5:p.Arg892Cys
ENST00000382381.7:c.2500C>T ENSP00000371818.3:p.Arg834Cys
ENST00000563623.5:n.3237C>T
NM_001089.2:c.2674C>T NP_001080.2:p.Arg892Cys
NM_001089.3:c.2674C>T MANE Select NP_001080.2:p.Arg892Cys
Search 100 bp 5'
Search 100 bp 3'