Canonical Allele Identifier: CA119137
Gene: ABCA4 HGNC NCBI
COSMIC:
COSM4987819 (not active)
MyVariant.info:
GRCh38 chr1:g.94040048A>C
GRCh37 chr1:g.94505604A>C
Revel Score:
ENST00000370225 (MANE Select) 0.555
gnomAD v2:
1:94505604 A / C
gnomAD v3:
1:94040048 A / C
gnomAD v4:
chr1-94040048-A-C
Joint Max Group AF 0.0928572 (AFR)
Genomes Max Group AF 0.09091086 (AFR)
Exomes Max Group AF 0.09358147 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94040048A>C , CM000663.2:g.94040048A>C GRCh38
NC_000001.10:g.94505604A>C , CM000663.1:g.94505604A>C GRCh37
NC_000001.9:g.94278192A>C NCBI36
NG_009073.1:g.86102T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3602T>G MANE Select ENSP00000359245.3:p.Leu1201Arg
ENST00000370225.3:c.3602T>G ENSP00000359245.3:p.Leu1201Arg
ENST00000536513.5:c.-23T>G ENSP00000439707.2:n.-23T>G
NM_000350.2:c.3602T>G NP_000341.2:p.Leu1201Arg
NM_000350.3:c.3602T>G MANE Select NP_000341.2:p.Leu1201Arg
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