Canonical Allele Identifier: CA227037
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94047010G>A
GRCh37 chr1:g.94512566G>A
Revel Score:
ENST00000370225 (MANE Select) 0.686
ENST00000535735 0.686
gnomAD v2:
1:94512566 G / A
gnomAD v3:
1:94047010 G / A
gnomAD v4:
chr1-94047010-G-A
Joint Max Group AF 0.00020582 (EAS)
Genomes Max Group AF 0.0000684 (EAS)
Exomes Max Group AF 0.00019285 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047010G>A , CM000663.2:g.94047010G>A GRCh38
NC_000001.10:g.94512566G>A , CM000663.1:g.94512566G>A GRCh37
NC_000001.9:g.94285154G>A NCBI36
NG_009073.1:g.79140C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2827C>T MANE Select ENSP00000359245.3:p.Arg943Trp
ENST00000649773.1:c.2605C>T ENSP00000496882.1:p.Arg869Trp
ENST00000370225.3:c.2827C>T ENSP00000359245.3:p.Arg943Trp
ENST00000536513.5:c.-64-6921C>T ENSP00000439707.2:n.-64-6921C>T
NM_000350.2:c.2827C>T NP_000341.2:p.Arg943Trp
NM_000350.3:c.2827C>T MANE Select NP_000341.2:p.Arg943Trp
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