Canonical Allele Identifier: CA26836689
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs763967269
gnomAD v3: 1-94007553-T-C
gnomAD v4: 1-94007553-T-C
MyVariant Identifiers: chr1:g.94473109T>C (hg19) chr1:g.94007553T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007553T>C , CM000663.2:g.94007553T>C GRCh38
NC_000001.10:g.94473109T>C , CM000663.1:g.94473109T>C GRCh37
NC_000001.9:g.94245697T>C NCBI36
NG_009073.1:g.118597A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+81A>G MANE Select ENSP00000359245.3:n.6005+81A>G
ENST00000370225.3:c.6005+81A>G ENSP00000359245.3:n.6005+81A>G
ENST00000465352.1:n.421+81A>G
ENST00000484388.1:n.119+81A>G
ENST00000536513.5:c.2381+81A>G ENSP00000439707.2:n.2381+81A>G
NM_000350.2:c.6005+81A>G NP_000341.2:n.6005+81A>G
NM_000350.3:c.6005+81A>G MANE Select NP_000341.2:n.6005+81A>G
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