Canonical Allele Identifier: CA227044
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99168
ClinVar RCV Id: RCV000085517
dbSNP Id: rs61752409
MyVariant Identifiers: chr1:g.94512517G>A (hg19) chr1:g.94046961G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046961G>A , CM000663.2:g.94046961G>A GRCh38
NC_000001.10:g.94512517G>A , CM000663.1:g.94512517G>A GRCh37
NC_000001.9:g.94285105G>A NCBI36
NG_009073.1:g.79189C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2876C>T MANE Select ENSP00000359245.3:p.Thr959Ile
ENST00000649773.1:c.2654C>T ENSP00000496882.1:p.Thr885Ile
ENST00000370225.3:c.2876C>T ENSP00000359245.3:p.Thr959Ile
ENST00000536513.5:c.-64-6872C>T ENSP00000439707.2:n.-64-6872C>T
NM_000350.2:c.2876C>T NP_000341.2:p.Thr959Ile
NM_000350.3:c.2876C>T MANE Select NP_000341.2:p.Thr959Ile
Search 100 bp 5'
Search 100 bp 3'