Canonical Allele Identifier: CA394316758
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1490344721
gnomAD v3: 16-2285532-C-A
gnomAD v4: 16-2285532-C-A
MyVariant Identifiers: chr16:g.2335533C>A (hg19) chr16:g.2285532C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285532C>A , CM000678.2:g.2285532C>A GRCh38
NC_000016.9:g.2335533C>A , CM000678.1:g.2335533C>A GRCh37
NC_000016.8:g.2275534C>A NCBI36
NG_011790.1:g.60215G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3393G>T MANE Select ENSP00000301732.5:p.Gln1131His
ENST00000301732.9:c.3393G>T ENSP00000301732.5:p.Gln1131His
ENST00000382381.7:c.3219G>T ENSP00000371818.3:p.Gln1073His
NM_001089.2:c.3393G>T NP_001080.2:p.Gln1131His
NM_001089.3:c.3393G>T MANE Select NP_001080.2:p.Gln1131His
Search 100 bp 5'
Search 100 bp 3'