Canonical Allele Identifier: CA227072
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94044622A>C
GRCh37 chr1:g.94510178A>C
Revel Score:
ENST00000370225 (MANE Select) 0.980
gnomAD v3:
1:94044622 A / C
gnomAD v4:
chr1-94044622-A-C
Joint Max Group AF 2.8e-7 (NFE)
ClinVar Allele:
105080
ClinVar RCV:
RCV000085540
ClinVar Variation:
99191
dbSNP:
61749456
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94044622A>C , CM000663.2:g.94044622A>C GRCh38
NC_000001.10:g.94510178A>C , CM000663.1:g.94510178A>C GRCh37
NC_000001.9:g.94282766A>C NCBI36
NG_009073.1:g.81528T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3041T>G MANE Select ENSP00000359245.3:p.Leu1014Arg
ENST00000370225.3:c.3041T>G ENSP00000359245.3:p.Leu1014Arg
ENST00000536513.5:c.-64-4533T>G ENSP00000439707.2:n.-64-4533T>G
NM_000350.2:c.3041T>G NP_000341.2:p.Leu1014Arg
NM_000350.3:c.3041T>G MANE Select NP_000341.2:p.Leu1014Arg
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