Canonical Allele Identifier: CA227195
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94029521C>A
GRCh37 chr1:g.94495077C>A
Revel Score:
ENST00000546054 0.940
ENST00000370225 (MANE Select) 0.940
gnomAD v2:
1:94495077 C / A
gnomAD v3:
1:94029521 C / A
gnomAD v4:
chr1-94029521-C-A
Joint Max Group AF 0.00001728 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001667 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029521C>A , CM000663.2:g.94029521C>A GRCh38
NC_000001.10:g.94495077C>A , CM000663.1:g.94495077C>A GRCh37
NC_000001.9:g.94267665C>A NCBI36
NG_009073.1:g.96629G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4463G>T MANE Select ENSP00000359245.3:p.Cys1488Phe
ENST00000370225.3:c.4463G>T ENSP00000359245.3:p.Cys1488Phe
ENST00000536513.5:c.839G>T ENSP00000439707.2:p.Cys280Phe
NM_000350.2:c.4463G>T NP_000341.2:p.Cys1488Phe
NM_000350.3:c.4463G>T MANE Select NP_000341.2:p.Cys1488Phe
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