Canonical Allele Identifier: CA418821599
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2763911
ClinVar RCV Id: RCV003565323
MyVariant Identifiers: chr1:g.94526255A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060699A>C , CM000663.2:g.94060699A>C GRCh38
NC_000001.10:g.94526255A>C , CM000663.1:g.94526255A>C GRCh37
NC_000001.9:g.94298843A>C NCBI36
NG_009073.1:g.65451T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1998T>G MANE Select ENSP00000359245.3:p.Ser666=
ENST00000649773.1:c.1998T>G ENSP00000496882.1:p.Ser666=
ENST00000370225.3:c.1998T>G ENSP00000359245.3:p.Ser666=
ENST00000472033.1:n.118T>G
ENST00000536513.5:c.-65+2475T>G ENSP00000439707.2:n.-65+2475T>G
NM_000350.2:c.1998T>G NP_000341.2:p.Ser666=
NM_000350.3:c.1998T>G MANE Select NP_000341.2:p.Ser666=
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