Canonical Allele Identifier: CA227390
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99449
ClinVar RCV Id: RCV000085808
dbSNP Id: rs62642564
MyVariant Identifiers: chr1:g.94466624C>G (hg19) chr1:g.94001068C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001068C>G , CM000663.2:g.94001068C>G GRCh38
NC_000001.10:g.94466624C>G , CM000663.1:g.94466624C>G GRCh37
NC_000001.9:g.94239212C>G NCBI36
NG_009073.1:g.125082G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6320G>C MANE Select ENSP00000359245.3:p.Arg2107Pro
ENST00000370225.3:c.6320G>C ENSP00000359245.3:p.Arg2107Pro
ENST00000536513.5:c.2696G>C ENSP00000439707.2:p.Arg899Pro
NM_000350.2:c.6320G>C NP_000341.2:p.Arg2107Pro
NM_000350.3:c.6320G>C MANE Select NP_000341.2:p.Arg2107Pro
Search 100 bp 5'
Search 100 bp 3'