Canonical Allele Identifier: CA418820588
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2815759
ClinVar RCV Id: RCV003685584 RCV003889318
MyVariant Identifiers: chr1:g.94526099G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060543G>A , CM000663.2:g.94060543G>A GRCh38
NC_000001.10:g.94526099G>A , CM000663.1:g.94526099G>A GRCh37
NC_000001.9:g.94298687G>A NCBI36
NG_009073.1:g.65607C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2154C>T MANE Select ENSP00000359245.3:p.Phe718=
ENST00000649773.1:c.2154C>T ENSP00000496882.1:p.Phe718=
ENST00000370225.3:c.2154C>T ENSP00000359245.3:p.Phe718=
ENST00000472033.1:n.274C>T
ENST00000536513.5:c.-65+2631C>T ENSP00000439707.2:n.-65+2631C>T
NM_000350.2:c.2154C>T NP_000341.2:p.Phe718=
NM_000350.3:c.2154C>T MANE Select NP_000341.2:p.Phe718=
Search 100 bp 5'
Search 100 bp 3'