Canonical Allele Identifier: CA26843502
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94018423C>T
GRCh37 chr1:g.94483979C>T
gnomAD v2:
1:94483979 C / T
gnomAD v3:
1:94018423 C / T
gnomAD v4:
chr1-94018423-C-T
Joint Max Group AF 0.04756656 (EAS)
Genomes Max Group AF 0.050079 (EAS)
Exomes Max Group AF 0.04351136 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94018423C>T , CM000663.2:g.94018423C>T GRCh38
NC_000001.10:g.94483979C>T , CM000663.1:g.94483979C>T GRCh37
NC_000001.9:g.94256567C>T NCBI36
NG_009073.1:g.107727G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5196+1159G>A MANE Select ENSP00000359245.3:n.5196+1159G>A
ENST00000370225.3:c.5196+1159G>A ENSP00000359245.3:n.5196+1159G>A
ENST00000536513.5:c.1572+1159G>A ENSP00000439707.2:n.1572+1159G>A
NM_000350.2:c.5196+1159G>A NP_000341.2:n.5196+1159G>A
NM_000350.3:c.5196+1159G>A MANE Select NP_000341.2:n.5196+1159G>A
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