Canonical Allele Identifier: CA341275538
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94512605A>C (hg19) chr1:g.94047049A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047049A>C , CM000663.2:g.94047049A>C GRCh38
NC_000001.10:g.94512605A>C , CM000663.1:g.94512605A>C GRCh37
NC_000001.9:g.94285193A>C NCBI36
NG_009073.1:g.79101T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2788T>G MANE Select ENSP00000359245.3:p.Cys930Gly
ENST00000649773.1:c.2566T>G ENSP00000496882.1:p.Cys856Gly
ENST00000370225.3:c.2788T>G ENSP00000359245.3:p.Cys930Gly
ENST00000536513.5:c.-64-6960T>G ENSP00000439707.2:n.-64-6960T>G
NM_000350.2:c.2788T>G NP_000341.2:p.Cys930Gly
NM_000350.3:c.2788T>G MANE Select NP_000341.2:p.Cys930Gly
Search 100 bp 5'
Search 100 bp 3'