Canonical Allele Identifier: CA341283673
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057512
ClinVar RCV Id: RCV001366509
dbSNP Id: rs61750155
MyVariant Identifiers: chr1:g.94487251G>C (hg19) chr1:g.94021695G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021695G>C , CM000663.2:g.94021695G>C GRCh38
NC_000001.10:g.94487251G>C , CM000663.1:g.94487251G>C GRCh37
NC_000001.9:g.94259839G>C NCBI36
NG_009073.1:g.104455C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4793C>G MANE Select ENSP00000359245.3:p.Ala1598Gly
ENST00000370225.3:c.4793C>G ENSP00000359245.3:p.Ala1598Gly
ENST00000460514.1:n.287C>G
ENST00000536513.5:c.1169C>G ENSP00000439707.2:p.Ala390Gly
NM_000350.2:c.4793C>G NP_000341.2:p.Ala1598Gly
NM_000350.3:c.4793C>G MANE Select NP_000341.2:p.Ala1598Gly
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