Canonical Allele Identifier: CA958766
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94098885C>A
GRCh37 chr1:g.94564441C>A
Revel Score:
ENST00000370225 (MANE Select) 0.464
ENST00000535735 0.464
gnomAD v2:
1:94564441 C / A
gnomAD v3:
1:94098885 C / A
gnomAD v4:
chr1-94098885-C-A
Joint Max Group AF 0.00332078 (AFR)
Genomes Max Group AF 0.00291234 (AFR)
Exomes Max Group AF 0.00350609 (AFR)
ClinVar RCV:
RCV000481221
ClinVar Variation:
417980
dbSNP:
144310835
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94098885C>A , CM000663.2:g.94098885C>A GRCh38
NC_000001.10:g.94564441C>A , CM000663.1:g.94564441C>A GRCh37
NC_000001.9:g.94337029C>A NCBI36
NG_009073.1:g.27265G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.677G>T MANE Select ENSP00000359245.3:p.Arg226Leu
ENST00000649773.1:c.677G>T ENSP00000496882.1:p.Arg226Leu
ENST00000370225.3:c.677G>T ENSP00000359245.3:p.Arg226Leu
NM_000350.2:c.677G>T NP_000341.2:p.Arg226Leu
NM_000350.3:c.677G>T MANE Select NP_000341.2:p.Arg226Leu
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