Canonical Allele Identifier: CA7840046
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 318396
dbSNP Id: rs751040357
gnomAD v2: 16-2328309-G-A
gnomAD v3: 16-2278308-G-A
gnomAD v4: 16-2278308-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278308G>A , CM000678.2:g.2278308G>A GRCh38
NC_000016.9:g.2328309G>A , CM000678.1:g.2328309G>A GRCh37
NC_000016.8:g.2268310G>A NCBI36
NG_011790.1:g.67439C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4698C>T MANE Select ENSP00000301732.5:p.Ala1566=
ENST00000301732.9:c.4698C>T ENSP00000301732.5:p.Ala1566=
ENST00000382381.7:c.4524C>T ENSP00000371818.3:p.Ala1508=
ENST00000566200.1:n.1219C>T
NM_001089.2:c.4698C>T NP_001080.2:p.Ala1566=
NM_001089.3:c.4698C>T MANE Select NP_001080.2:p.Ala1566=