Canonical Allele Identifier: CA341278268
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866298
ClinVar RCV Id: RCV001074168
dbSNP Id: rs62642580
gnomAD v4: 1-94001927-G-C
MyVariant Identifiers: chr1:g.94467483G>C (hg19) chr1:g.94001927G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001927G>C , CM000663.2:g.94001927G>C GRCh38
NC_000001.10:g.94467483G>C , CM000663.1:g.94467483G>C GRCh37
NC_000001.9:g.94240071G>C NCBI36
NG_009073.1:g.124223C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6213C>G MANE Select ENSP00000359245.3:p.Tyr2071Ter
ENST00000370225.3:c.6213C>G ENSP00000359245.3:p.Tyr2071Ter
ENST00000465352.1:n.629C>G
ENST00000536513.5:c.2589C>G ENSP00000439707.2:p.Tyr863Ter
NM_000350.2:c.6213C>G NP_000341.2:p.Tyr2071Ter
NM_000350.3:c.6213C>G MANE Select NP_000341.2:p.Tyr2071Ter
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