Canonical Allele Identifier: CA418812502
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1560359
ClinVar RCV Id: RCV002195610
dbSNP Id: rs2101057503
MyVariant Identifiers: chr1:g.94512648G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047092G>A , CM000663.2:g.94047092G>A GRCh38
NC_000001.10:g.94512648G>A , CM000663.1:g.94512648G>A GRCh37
NC_000001.9:g.94285236G>A NCBI36
NG_009073.1:g.79058C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2745C>T MANE Select ENSP00000359245.3:p.Asp915=
ENST00000649773.1:c.2523C>T ENSP00000496882.1:p.Asp841=
ENST00000370225.3:c.2745C>T ENSP00000359245.3:p.Asp915=
ENST00000536513.5:c.-64-7003C>T ENSP00000439707.2:n.-64-7003C>T
NM_000350.2:c.2745C>T NP_000341.2:p.Asp915=
NM_000350.3:c.2745C>T MANE Select NP_000341.2:p.Asp915=
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