Canonical Allele Identifier: CA394324743
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1183346628
gnomAD v2: 16-2339470-C-T
gnomAD v3: 16-2289469-C-T
gnomAD v4: 16-2289469-C-T
MyVariant Identifiers: chr16:g.2339470C>T (hg19) chr16:g.2289469C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2289469C>T , CM000678.2:g.2289469C>T GRCh38
NC_000016.9:g.2339470C>T , CM000678.1:g.2339470C>T GRCh37
NC_000016.8:g.2279471C>T NCBI36
NG_011790.1:g.56278G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.2665G>A MANE Select ENSP00000301732.5:p.Glu889Lys
ENST00000301732.9:c.2665G>A ENSP00000301732.5:p.Glu889Lys
ENST00000382381.7:c.2491G>A ENSP00000371818.3:p.Glu831Lys
ENST00000563623.5:n.3228G>A
NM_001089.2:c.2665G>A NP_001080.2:p.Glu889Lys
NM_001089.3:c.2665G>A MANE Select NP_001080.2:p.Glu889Lys
Search 100 bp 5'
Search 100 bp 3'