Canonical Allele Identifier: CA10602441
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94044754A>G
GRCh37 chr1:g.94510310A>G
gnomAD v2:
1:94510310 A / G
gnomAD v3:
1:94044754 A / G
gnomAD v4:
chr1-94044754-A-G
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94044754A>G , CM000663.2:g.94044754A>G GRCh38
NC_000001.10:g.94510310A>G , CM000663.1:g.94510310A>G GRCh37
NC_000001.9:g.94282898A>G NCBI36
NG_009073.1:g.81396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2919-10T>C MANE Select ENSP00000359245.3:n.2919-10T>C
ENST00000370225.3:c.2919-10T>C ENSP00000359245.3:n.2919-10T>C
ENST00000536513.5:c.-64-4665T>C ENSP00000439707.2:n.-64-4665T>C
NM_000350.2:c.2919-10T>C NP_000341.2:n.2919-10T>C
NM_000350.3:c.2919-10T>C MANE Select NP_000341.2:n.2919-10T>C
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