Canonical Allele Identifier: CA418812091
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2969156
ClinVar RCV Id: RCV003826826
gnomAD v4: 1-94047032-T-C
COSMIC: COSM3369878 COSM3369879
MyVariant Identifiers: chr1:g.94512588T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047032T>C , CM000663.2:g.94047032T>C GRCh38
NC_000001.10:g.94512588T>C , CM000663.1:g.94512588T>C GRCh37
NC_000001.9:g.94285176T>C NCBI36
NG_009073.1:g.79118A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2805A>G MANE Select ENSP00000359245.3:p.Val935=
ENST00000649773.1:c.2583A>G ENSP00000496882.1:p.Val861=
ENST00000370225.3:c.2805A>G ENSP00000359245.3:p.Val935=
ENST00000536513.5:c.-64-6943A>G ENSP00000439707.2:n.-64-6943A>G
NM_000350.2:c.2805A>G NP_000341.2:p.Val935=
NM_000350.3:c.2805A>G MANE Select NP_000341.2:p.Val935=
Search 100 bp 5'
Search 100 bp 3'