Canonical Allele Identifier: CA7840051
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs777725359
ExAC: 16:2328338 C / T
gnomAD v2: 16-2328338-C-T
gnomAD v3: 16-2278337-C-T
gnomAD v4: 16-2278337-C-T
MyVariant Identifiers: chr16:g.2328338C>T (hg19) chr16:g.2278337C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278337C>T , CM000678.2:g.2278337C>T GRCh38
NC_000016.9:g.2328338C>T , CM000678.1:g.2328338C>T GRCh37
NC_000016.8:g.2268339C>T NCBI36
NG_011790.1:g.67410G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4669G>A MANE Select ENSP00000301732.5:p.Val1557Met
ENST00000301732.9:c.4669G>A ENSP00000301732.5:p.Val1557Met
ENST00000382381.7:c.4495G>A ENSP00000371818.3:p.Val1499Met
ENST00000566200.1:n.1190G>A
NM_001089.2:c.4669G>A NP_001080.2:p.Val1557Met
NM_001089.3:c.4669G>A MANE Select NP_001080.2:p.Val1557Met
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