Canonical Allele Identifier: CA227098
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94042828T>G
GRCh37 chr1:g.94508384T>G
Revel Score:
ENST00000370225 (MANE Select) 0.942
gnomAD v4:
chr1-94042828-T-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042828T>G , CM000663.2:g.94042828T>G GRCh38
NC_000001.10:g.94508384T>G , CM000663.1:g.94508384T>G GRCh37
NC_000001.9:g.94280972T>G NCBI36
NG_009073.1:g.83322A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3261A>C MANE Select ENSP00000359245.3:p.Glu1087Asp
ENST00000370225.3:c.3261A>C ENSP00000359245.3:p.Glu1087Asp
ENST00000536513.5:c.-64-2739A>C ENSP00000439707.2:n.-64-2739A>C
NM_000350.2:c.3261A>C NP_000341.2:p.Glu1087Asp
NM_000350.3:c.3261A>C MANE Select NP_000341.2:p.Glu1087Asp
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