Canonical Allele Identifier: CA227025
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94048910T>C
GRCh37 chr1:g.94514466T>C
Revel Score:
ENST00000370225 (MANE Select) 0.590
ENST00000535735 0.590
gnomAD v2:
1:94514466 T / C
gnomAD v3:
1:94048910 T / C
gnomAD v4:
chr1-94048910-T-C
Joint Max Group AF 0.00421268 (NFE)
Genomes Max Group AF 0.00277271 (NFE)
Exomes Max Group AF 0.00428162 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94048910T>C , CM000663.2:g.94048910T>C GRCh38
NC_000001.10:g.94514466T>C , CM000663.1:g.94514466T>C GRCh37
NC_000001.9:g.94287054T>C NCBI36
NG_009073.1:g.77240A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2701A>G MANE Select ENSP00000359245.3:p.Thr901Ala
ENST00000649773.1:c.2479A>G ENSP00000496882.1:p.Thr827Ala
ENST00000370225.3:c.2701A>G ENSP00000359245.3:p.Thr901Ala
ENST00000536513.5:c.-64-8821A>G ENSP00000439707.2:n.-64-8821A>G
NM_000350.2:c.2701A>G NP_000341.2:p.Thr901Ala
NM_000350.3:c.2701A>G MANE Select NP_000341.2:p.Thr901Ala
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