Canonical Allele Identifier: CA418821932
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2836045
ClinVar RCV Id: RCV003689873
COSMIC: COSM361091
MyVariant Identifiers: chr1:g.94487468G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021912G>A , CM000663.2:g.94021912G>A GRCh38
NC_000001.10:g.94487468G>A , CM000663.1:g.94487468G>A GRCh37
NC_000001.9:g.94260056G>A NCBI36
NG_009073.1:g.104238C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4707C>T MANE Select ENSP00000359245.3:p.Val1569=
ENST00000370225.3:c.4707C>T ENSP00000359245.3:p.Val1569=
ENST00000460514.1:n.201C>T
ENST00000536513.5:c.1083C>T ENSP00000439707.2:p.Val361=
NM_000350.2:c.4707C>T NP_000341.2:p.Val1569=
NM_000350.3:c.4707C>T MANE Select NP_000341.2:p.Val1569=
Search 100 bp 5'
Search 100 bp 3'