Canonical Allele Identifier: CA227233
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94021871A>G
GRCh37 chr1:g.94487427A>G
Revel Score:
ENST00000546054 0.809
ENST00000370225 (MANE Select) 0.809
gnomAD v2:
1:94487427 A / G
gnomAD v4:
chr1-94021871-A-G
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00002003 (EAS)
ClinVar RCV:
RCV000085669
RCV001376269
ClinVar Variation:
99316
dbSNP:
61750153
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021871A>G , CM000663.2:g.94021871A>G GRCh38
NC_000001.10:g.94487427A>G , CM000663.1:g.94487427A>G GRCh37
NC_000001.9:g.94260015A>G NCBI36
NG_009073.1:g.104279T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4748T>C MANE Select ENSP00000359245.3:p.Leu1583Pro
ENST00000370225.3:c.4748T>C ENSP00000359245.3:p.Leu1583Pro
ENST00000460514.1:n.242T>C
ENST00000536513.5:c.1124T>C ENSP00000439707.2:p.Leu375Pro
NM_000350.2:c.4748T>C NP_000341.2:p.Leu1583Pro
NM_000350.3:c.4748T>C MANE Select NP_000341.2:p.Leu1583Pro
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