Canonical Allele Identifier: CA958582
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94078714C>G
GRCh37 chr1:g.94544270C>G
gnomAD v2:
1:94544270 C / G
gnomAD v3:
1:94078714 C / G
gnomAD v4:
chr1-94078714-C-G
Joint Max Group AF 0.00124242 (NFE)
Genomes Max Group AF 0.00045662 (NFE)
Exomes Max Group AF 0.00128314 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94078714C>G , CM000663.2:g.94078714C>G GRCh38
NC_000001.10:g.94544270C>G , CM000663.1:g.94544270C>G GRCh37
NC_000001.9:g.94316858C>G NCBI36
NG_009073.1:g.47436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1240-8G>C MANE Select ENSP00000359245.3:n.1240-8G>C
ENST00000649773.1:c.1240-8G>C ENSP00000496882.1:n.1240-8G>C
ENST00000370225.3:c.1240-8G>C ENSP00000359245.3:n.1240-8G>C
NM_000350.2:c.1240-8G>C NP_000341.2:n.1240-8G>C
NM_000350.3:c.1240-8G>C MANE Select NP_000341.2:n.1240-8G>C
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