Canonical Allele Identifier: CA418811987
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2860897
ClinVar RCV Id: RCV003697116
dbSNP Id: rs1660703842
MyVariant Identifiers: chr1:g.94512576C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047020C>T , CM000663.2:g.94047020C>T GRCh38
NC_000001.10:g.94512576C>T , CM000663.1:g.94512576C>T GRCh37
NC_000001.9:g.94285164C>T NCBI36
NG_009073.1:g.79130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2817G>A MANE Select ENSP00000359245.3:p.Glu939=
ENST00000649773.1:c.2595G>A ENSP00000496882.1:p.Glu865=
ENST00000370225.3:c.2817G>A ENSP00000359245.3:p.Glu939=
ENST00000536513.5:c.-64-6931G>A ENSP00000439707.2:n.-64-6931G>A
NM_000350.2:c.2817G>A NP_000341.2:p.Glu939=
NM_000350.3:c.2817G>A MANE Select NP_000341.2:p.Glu939=
Search 100 bp 5'
Search 100 bp 3'