Canonical Allele Identifier: CA7840057
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 886354
ClinVar RCV Id: RCV001118499
dbSNP Id: rs760817596
ExAC: 16:2328365 C / T
gnomAD v2: 16-2328365-C-T
gnomAD v4: 16-2278364-C-T
MyVariant Identifiers: chr16:g.2328365C>T (hg19) chr16:g.2278364C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278364C>T , CM000678.2:g.2278364C>T GRCh38
NC_000016.9:g.2328365C>T , CM000678.1:g.2328365C>T GRCh37
NC_000016.8:g.2268366C>T NCBI36
NG_011790.1:g.67383G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4642G>A MANE Select ENSP00000301732.5:p.Val1548Met
ENST00000301732.9:c.4642G>A ENSP00000301732.5:p.Val1548Met
ENST00000382381.7:c.4468G>A ENSP00000371818.3:p.Val1490Met
ENST00000566200.1:n.1163G>A
NM_001089.2:c.4642G>A NP_001080.2:p.Val1548Met
NM_001089.3:c.4642G>A MANE Select NP_001080.2:p.Val1548Met
Search 100 bp 5'
Search 100 bp 3'