Canonical Allele Identifier: CA227373
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94001961A>C
GRCh37 chr1:g.94467517A>C
Revel Score:
ENST00000546054 0.992
ENST00000370225 (MANE Select) 0.992
ENST00000536513 0.992
ENST00000535881 0.992
gnomAD v4:
chr1-94001961-A-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000085792
RCV002490744
ClinVar Variation:
99433
dbSNP:
61753039
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001961A>C , CM000663.2:g.94001961A>C GRCh38
NC_000001.10:g.94467517A>C , CM000663.1:g.94467517A>C GRCh37
NC_000001.9:g.94240105A>C NCBI36
NG_009073.1:g.124189T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6179T>G MANE Select ENSP00000359245.3:p.Leu2060Arg
ENST00000370225.3:c.6179T>G ENSP00000359245.3:p.Leu2060Arg
ENST00000465352.1:n.595T>G
ENST00000536513.5:c.2555T>G ENSP00000439707.2:p.Leu852Arg
NM_000350.2:c.6179T>G NP_000341.2:p.Leu2060Arg
NM_000350.3:c.6179T>G MANE Select NP_000341.2:p.Leu2060Arg
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