Canonical Allele Identifier: CA7840056
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742161
ClinVar RCV Id: RCV002335061
dbSNP Id: rs781422468
ExAC: 16:2328359 G / A
gnomAD v2: 16-2328359-G-A
gnomAD v3: 16-2278358-G-A
gnomAD v4: 16-2278358-G-A
COSMIC: COSM4059364
MyVariant Identifiers: chr16:g.2328359G>A (hg19) chr16:g.2278358G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278358G>A , CM000678.2:g.2278358G>A GRCh38
NC_000016.9:g.2328359G>A , CM000678.1:g.2328359G>A GRCh37
NC_000016.8:g.2268360G>A NCBI36
NG_011790.1:g.67389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4648C>T MANE Select ENSP00000301732.5:p.Arg1550Trp
ENST00000301732.9:c.4648C>T ENSP00000301732.5:p.Arg1550Trp
ENST00000382381.7:c.4474C>T ENSP00000371818.3:p.Arg1492Trp
ENST00000566200.1:n.1169C>T
NM_001089.2:c.4648C>T NP_001080.2:p.Arg1550Trp
NM_001089.3:c.4648C>T MANE Select NP_001080.2:p.Arg1550Trp
Search 100 bp 5'
Search 100 bp 3'