Canonical Allele Identifier: CA170081
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94098799G>A
GRCh37 chr1:g.94564355G>A
Revel Score:
ENST00000370225 (MANE Select) 0.615
ENST00000535735 0.615
gnomAD v2:
1:94564355 G / A
gnomAD v3:
1:94098799 G / A
gnomAD v4:
chr1-94098799-G-A
Joint Max Group AF 0.00067264 (EAS)
Genomes Max Group AF 0.00026283 (EAS)
Exomes Max Group AF 0.00067267 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94098799G>A , CM000663.2:g.94098799G>A GRCh38
NC_000001.10:g.94564355G>A , CM000663.1:g.94564355G>A GRCh37
NC_000001.9:g.94336943G>A NCBI36
NG_009073.1:g.27351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.763C>T MANE Select ENSP00000359245.3:p.Arg255Cys
ENST00000649773.1:c.763C>T ENSP00000496882.1:p.Arg255Cys
ENST00000370225.3:c.763C>T ENSP00000359245.3:p.Arg255Cys
NM_000350.2:c.763C>T NP_000341.2:p.Arg255Cys
NM_000350.3:c.763C>T MANE Select NP_000341.2:p.Arg255Cys
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