Canonical Allele Identifier: CA7840535
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs769422780
ExAC: 16:2335572 C / T
gnomAD v2: 16-2335572-C-T
gnomAD v4: 16-2285571-C-T
MyVariant Identifiers: chr16:g.2335572C>T (hg19) chr16:g.2285571C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285571C>T , CM000678.2:g.2285571C>T GRCh38
NC_000016.9:g.2335572C>T , CM000678.1:g.2335572C>T GRCh37
NC_000016.8:g.2275573C>T NCBI36
NG_011790.1:g.60176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3354G>A MANE Select ENSP00000301732.5:p.Leu1118=
ENST00000301732.9:c.3354G>A ENSP00000301732.5:p.Leu1118=
ENST00000382381.7:c.3180G>A ENSP00000371818.3:p.Leu1060=
NM_001089.2:c.3354G>A NP_001080.2:p.Leu1118=
NM_001089.3:c.3354G>A MANE Select NP_001080.2:p.Leu1118=
Search 100 bp 5'
Search 100 bp 3'