Canonical Allele Identifier: CA341279328
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 859481
ClinVar RCV Id: RCV001065602
dbSNP Id: rs1453899480
MyVariant Identifiers: chr1:g.94473188A>C (hg19) chr1:g.94007632A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007632A>C , CM000663.2:g.94007632A>C GRCh38
NC_000001.10:g.94473188A>C , CM000663.1:g.94473188A>C GRCh37
NC_000001.9:g.94245776A>C NCBI36
NG_009073.1:g.118518T>G

Transcript Alleles

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