Canonical Allele Identifier: CA220688
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94001992C>G
GRCh37 chr1:g.94467548C>G
Revel Score:
ENST00000546054 0.759
ENST00000370225 (MANE Select) 0.759
ENST00000536513 0.759
ENST00000535881 0.759
gnomAD v2:
1:94467548 C / G
gnomAD v3:
1:94001992 C / G
gnomAD v4:
chr1-94001992-C-G
Joint Max Group AF 0.00618923 (AMR)
Genomes Max Group AF 0.00724949 (AMR)
Exomes Max Group AF 0.00555185 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001992C>G , CM000663.2:g.94001992C>G GRCh38
NC_000001.10:g.94467548C>G , CM000663.1:g.94467548C>G GRCh37
NC_000001.9:g.94240136C>G NCBI36
NG_009073.1:g.124158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148G>C MANE Select ENSP00000359245.3:p.Val2050Leu
ENST00000370225.3:c.6148G>C ENSP00000359245.3:p.Val2050Leu
ENST00000465352.1:n.564G>C
ENST00000536513.5:c.2524G>C ENSP00000439707.2:p.Val842Leu
NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu
NM_000350.3:c.6148G>C MANE Select NP_000341.2:p.Val2050Leu
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