Canonical Allele Identifier: CA418824303
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2982990
ClinVar RCV Id: RCV003845621
MyVariant Identifiers: chr1:g.94495043C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029487C>T , CM000663.2:g.94029487C>T GRCh38
NC_000001.10:g.94495043C>T , CM000663.1:g.94495043C>T GRCh37
NC_000001.9:g.94267631C>T NCBI36
NG_009073.1:g.96663G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4497G>A MANE Select ENSP00000359245.3:p.Leu1499=
ENST00000370225.3:c.4497G>A ENSP00000359245.3:p.Leu1499=
ENST00000536513.5:c.873G>A ENSP00000439707.2:p.Leu291=
NM_000350.2:c.4497G>A NP_000341.2:p.Leu1499=
NM_000350.3:c.4497G>A MANE Select NP_000341.2:p.Leu1499=
Search 100 bp 5'
Search 100 bp 3'