Canonical Allele Identifier: CA341279808
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866878
ClinVar RCV Id: RCV001075234 RCV002557923
dbSNP Id: rs1661166945
MyVariant Identifiers: chr1:g.94528309C>A (hg19) chr1:g.94062753C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062753C>A , CM000663.2:g.94062753C>A GRCh38
NC_000001.10:g.94528309C>A , CM000663.1:g.94528309C>A GRCh37
NC_000001.9:g.94300897C>A NCBI36
NG_009073.1:g.63397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761G>T MANE Select ENSP00000359245.3:p.Arg587Ser
ENST00000649773.1:c.1761G>T ENSP00000496882.1:p.Arg587Ser
ENST00000370225.3:c.1761G>T ENSP00000359245.3:p.Arg587Ser
ENST00000536513.5:c.-65+421G>T ENSP00000439707.2:n.-65+421G>T
NM_000350.2:c.1761G>T NP_000341.2:p.Arg587Ser
NM_000350.3:c.1761G>T MANE Select NP_000341.2:p.Arg587Ser
Search 100 bp 5'
Search 100 bp 3'