Canonical Allele Identifier: CA227166
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94031027A>G
GRCh37 chr1:g.94496583A>G
Revel Score:
ENST00000546054 0.822
ENST00000370225 (MANE Select) 0.822
gnomAD v2:
1:94496583 A / G
gnomAD v3:
1:94031027 A / G
gnomAD v4:
chr1-94031027-A-G
Joint Max Group AF 0.00003422 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003459 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031027A>G , CM000663.2:g.94031027A>G GRCh38
NC_000001.10:g.94496583A>G , CM000663.1:g.94496583A>G GRCh37
NC_000001.9:g.94269171A>G NCBI36
NG_009073.1:g.95123T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4222T>C MANE Select ENSP00000359245.3:p.Trp1408Arg
ENST00000370225.3:c.4222T>C ENSP00000359245.3:p.Trp1408Arg
ENST00000536513.5:c.598T>C ENSP00000439707.2:p.Trp200Arg
NM_000350.2:c.4222T>C NP_000341.2:p.Trp1408Arg
NM_000350.3:c.4222T>C MANE Select NP_000341.2:p.Trp1408Arg
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