Canonical Allele Identifier: CA227010
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94055138C>T
GRCh37 chr1:g.94520694C>T
Revel Score:
ENST00000370225 (MANE Select) 0.373
ENST00000535735 0.373
gnomAD v2:
1:94520694 C / T
gnomAD v3:
1:94055138 C / T
gnomAD v4:
chr1-94055138-C-T
Joint Max Group AF 0.00001144 (NFE)
Exomes Max Group AF 0.00001213 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94055138C>T , CM000663.2:g.94055138C>T GRCh38
NC_000001.10:g.94520694C>T , CM000663.1:g.94520694C>T GRCh37
NC_000001.9:g.94293282C>T NCBI36
NG_009073.1:g.71012G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2560G>A MANE Select ENSP00000359245.3:p.Ala854Thr
ENST00000649773.1:c.2338G>A ENSP00000496882.1:p.Ala780Thr
ENST00000370225.3:c.2560G>A ENSP00000359245.3:p.Ala854Thr
ENST00000536513.5:c.-65+8036G>A ENSP00000439707.2:n.-65+8036G>A
NM_000350.2:c.2560G>A NP_000341.2:p.Ala854Thr
NM_000350.3:c.2560G>A MANE Select NP_000341.2:p.Ala854Thr
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