Canonical Allele Identifier: CA394305396
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1390399506
gnomAD v2: 16-2328292-T-C
gnomAD v4: 16-2278291-T-C
MyVariant Identifiers: chr16:g.2328292T>C (hg19) chr16:g.2278291T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278291T>C , CM000678.2:g.2278291T>C GRCh38
NC_000016.9:g.2328292T>C , CM000678.1:g.2328292T>C GRCh37
NC_000016.8:g.2268293T>C NCBI36
NG_011790.1:g.67456A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4715A>G MANE Select ENSP00000301732.5:p.His1572Arg
ENST00000301732.9:c.4715A>G ENSP00000301732.5:p.His1572Arg
ENST00000382381.7:c.4541A>G ENSP00000371818.3:p.His1514Arg
NM_001089.2:c.4715A>G NP_001080.2:p.His1572Arg
NM_001089.3:c.4715A>G MANE Select NP_001080.2:p.His1572Arg
Search 100 bp 5'
Search 100 bp 3'