Canonical Allele Identifier: CA227116
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94041345C>A
GRCh37 chr1:g.94506901C>A
Revel Score:
ENST00000370225 (MANE Select) 0.848
gnomAD v2:
1:94506901 C / A
gnomAD v3:
1:94041345 C / A
gnomAD v4:
chr1-94041345-C-A
Joint Max Group AF 0.00129465 (AMR)
Genomes Max Group AF 0.00108159 (AMR)
Exomes Max Group AF 0.0012505 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041345C>A , CM000663.2:g.94041345C>A GRCh38
NC_000001.10:g.94506901C>A , CM000663.1:g.94506901C>A GRCh37
NC_000001.9:g.94279489C>A NCBI36
NG_009073.1:g.84805G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3386G>T MANE Select ENSP00000359245.3:p.Arg1129Leu
ENST00000370225.3:c.3386G>T ENSP00000359245.3:p.Arg1129Leu
ENST00000536513.5:c.-64-1256G>T ENSP00000439707.2:n.-64-1256G>T
NM_000350.2:c.3386G>T NP_000341.2:p.Arg1129Leu
NM_000350.3:c.3386G>T MANE Select NP_000341.2:p.Arg1129Leu
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