Canonical Allele Identifier: CA7841763
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 318574
ClinVar RCV Id: RCV002429270
dbSNP Id: rs117515055
ExAC: 16:2376117 G / A
gnomAD v2: 16-2376117-G-A
gnomAD v3: 16-2326116-G-A
gnomAD v4: 16-2326116-G-A
MyVariant Identifiers: chr16:g.2376117G>A (hg19) chr16:g.2326116G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326116G>A , CM000678.2:g.2326116G>A GRCh38
NC_000016.9:g.2376117G>A , CM000678.1:g.2376117G>A GRCh37
NC_000016.8:g.2316118G>A NCBI36
NG_011790.1:g.19631C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.213C>T MANE Select ENSP00000301732.5:p.Phe71=
ENST00000301732.9:c.213C>T ENSP00000301732.5:p.Phe71=
ENST00000382381.7:c.213C>T ENSP00000371818.3:p.Phe71=
ENST00000563623.5:n.776C>T
ENST00000567910.1:c.213C>T ENSP00000454397.1:p.Phe71=
NM_001089.2:c.213C>T NP_001080.2:p.Phe71=
NM_001089.3:c.213C>T MANE Select NP_001080.2:p.Phe71=
Search 100 bp 5'
Search 100 bp 3'