Canonical Allele Identifier: CA394305507
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1567335620
COSMIC: COSM5786985
MyVariant Identifiers: chr16:g.2328308T>C (hg19) chr16:g.2278307T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278307T>C , CM000678.2:g.2278307T>C GRCh38
NC_000016.9:g.2328308T>C , CM000678.1:g.2328308T>C GRCh37
NC_000016.8:g.2268309T>C NCBI36
NG_011790.1:g.67440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4699A>G MANE Select ENSP00000301732.5:p.Ile1567Val
ENST00000301732.9:c.4699A>G ENSP00000301732.5:p.Ile1567Val
ENST00000382381.7:c.4525A>G ENSP00000371818.3:p.Ile1509Val
ENST00000566200.1:n.1220A>G
NM_001089.2:c.4699A>G NP_001080.2:p.Ile1567Val
NM_001089.3:c.4699A>G MANE Select NP_001080.2:p.Ile1567Val
Search 100 bp 5'
Search 100 bp 3'