Canonical Allele Identifier: CA7840071
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898054
ClinVar RCV Id: RCV003726188 RCV004374135
dbSNP Id: rs746104195
ExAC: 16:2328438 C / T
gnomAD v2: 16-2328438-C-T
gnomAD v3: 16-2278437-C-T
gnomAD v4: 16-2278437-C-T
MyVariant Identifiers: chr16:g.2328438C>T (hg19) chr16:g.2278437C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278437C>T , CM000678.2:g.2278437C>T GRCh38
NC_000016.9:g.2328438C>T , CM000678.1:g.2328438C>T GRCh37
NC_000016.8:g.2268439C>T NCBI36
NG_011790.1:g.67310G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4569G>A MANE Select ENSP00000301732.5:p.Leu1523=
ENST00000301732.9:c.4569G>A ENSP00000301732.5:p.Leu1523=
ENST00000382381.7:c.4395G>A ENSP00000371818.3:p.Leu1465=
ENST00000566200.1:n.1090G>A
NM_001089.2:c.4569G>A NP_001080.2:p.Leu1523=
NM_001089.3:c.4569G>A MANE Select NP_001080.2:p.Leu1523=
Search 100 bp 5'
Search 100 bp 3'