Canonical Allele Identifier: CA341282739
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94019690G>C
GRCh37 chr1:g.94485246G>C
Revel Score:
ENST00000546054 0.774
ENST00000370225 (MANE Select) 0.774
gnomAD v4:
chr1-94019690-G-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000504832
ClinVar Variation:
438099
dbSNP:
1435203678
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94019690G>C , CM000663.2:g.94019690G>C GRCh38
NC_000001.10:g.94485246G>C , CM000663.1:g.94485246G>C GRCh37
NC_000001.9:g.94257834G>C NCBI36
NG_009073.1:g.106460C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5088C>G MANE Select ENSP00000359245.3:p.Ser1696Arg
ENST00000370225.3:c.5088C>G ENSP00000359245.3:p.Ser1696Arg
ENST00000460514.1:n.582C>G
ENST00000470771.1:n.198C>G
ENST00000536513.5:c.1464C>G ENSP00000439707.2:p.Ser488Arg
NM_000350.2:c.5088C>G NP_000341.2:p.Ser1696Arg
NM_000350.3:c.5088C>G MANE Select NP_000341.2:p.Ser1696Arg
Search 100 bp 5'
Search 100 bp 3'