Canonical Allele Identifier: CA26840734
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94046846C>T
GRCh37 chr1:g.94512402C>T
gnomAD v2:
1:94512402 C / T
gnomAD v3:
1:94046846 C / T
gnomAD v4:
chr1-94046846-C-T
Joint Max Group AF 0.00007692 (SAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00007211 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046846C>T , CM000663.2:g.94046846C>T GRCh38
NC_000001.10:g.94512402C>T , CM000663.1:g.94512402C>T GRCh37
NC_000001.9:g.94284990C>T NCBI36
NG_009073.1:g.79304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2918+73G>A MANE Select ENSP00000359245.3:n.2918+73G>A
ENST00000649773.1:c.2696+73G>A ENSP00000496882.1:n.2696+73G>A
ENST00000370225.3:c.2918+73G>A ENSP00000359245.3:n.2918+73G>A
ENST00000536513.5:c.-64-6757G>A ENSP00000439707.2:n.-64-6757G>A
NM_000350.2:c.2918+73G>A NP_000341.2:n.2918+73G>A
NM_000350.3:c.2918+73G>A MANE Select NP_000341.2:n.2918+73G>A
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