Canonical Allele Identifier: CA493092349
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1608097
ClinVar RCV Id: RCV002145079
dbSNP Id: rs2141687965
MyVariant Identifiers: chr16:g.2328297G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278296G>C , CM000678.2:g.2278296G>C GRCh38
NC_000016.9:g.2328297G>C , CM000678.1:g.2328297G>C GRCh37
NC_000016.8:g.2268298G>C NCBI36
NG_011790.1:g.67451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4710C>G MANE Select ENSP00000301732.5:p.Thr1570=
ENST00000301732.9:c.4710C>G ENSP00000301732.5:p.Thr1570=
ENST00000382381.7:c.4536C>G ENSP00000371818.3:p.Thr1512=
ENST00000566200.1:n.1231C>G
NM_001089.2:c.4710C>G NP_001080.2:p.Thr1570=
NM_001089.3:c.4710C>G MANE Select NP_001080.2:p.Thr1570=
Search 100 bp 5'
Search 100 bp 3'