Canonical Allele Identifier: CA10602412
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94007697G>C
GRCh37 chr1:g.94473253G>C
Revel Score:
ENST00000546054 0.960
ENST00000370225 (MANE Select) 0.960
ENST00000536513 0.960
ENST00000535881 0.960
ClinVar RCV:
RCV000408493
RCV001197194
ClinVar Variation:
236142
dbSNP:
752147871
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007697G>C , CM000663.2:g.94007697G>C GRCh38
NC_000001.10:g.94473253G>C , CM000663.1:g.94473253G>C GRCh37
NC_000001.9:g.94245841G>C NCBI36
NG_009073.1:g.118453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5942C>G MANE Select ENSP00000359245.3:p.Thr1981Arg
ENST00000370225.3:c.5942C>G ENSP00000359245.3:p.Thr1981Arg
ENST00000465352.1:n.358C>G
ENST00000484388.1:n.56C>G
ENST00000536513.5:c.2318C>G ENSP00000439707.2:p.Thr773Arg
NM_000350.2:c.5942C>G NP_000341.2:p.Thr1981Arg
NM_000350.3:c.5942C>G MANE Select NP_000341.2:p.Thr1981Arg
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