Canonical Allele Identifier: CA7840054
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746199
ClinVar RCV Id: RCV003562963
dbSNP Id: rs759612035
ExAC: 16:2328354 G / A
gnomAD v2: 16-2328354-G-A
gnomAD v4: 16-2278353-G-A
MyVariant Identifiers: chr16:g.2328354G>A (hg19) chr16:g.2278353G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278353G>A , CM000678.2:g.2278353G>A GRCh38
NC_000016.9:g.2328354G>A , CM000678.1:g.2328354G>A GRCh37
NC_000016.8:g.2268355G>A NCBI36
NG_011790.1:g.67394C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4653C>T MANE Select ENSP00000301732.5:p.Arg1551=
ENST00000301732.9:c.4653C>T ENSP00000301732.5:p.Arg1551=
ENST00000382381.7:c.4479C>T ENSP00000371818.3:p.Arg1493=
ENST00000566200.1:n.1174C>T
NM_001089.2:c.4653C>T NP_001080.2:p.Arg1551=
NM_001089.3:c.4653C>T MANE Select NP_001080.2:p.Arg1551=
Search 100 bp 5'
Search 100 bp 3'