Canonical Allele Identifier: CA418824300
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2835122
ClinVar RCV Id: RCV003686977
MyVariant Identifiers: chr1:g.94495043C>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4497G>T MANE Select ENSP00000359245.3:p.Leu1499=
ENST00000370225.3:c.4497G>T ENSP00000359245.3:p.Leu1499=
ENST00000536513.5:c.873G>T ENSP00000439707.2:p.Leu291=
NM_000350.2:c.4497G>T NP_000341.2:p.Leu1499=
NM_000350.3:c.4497G>T MANE Select NP_000341.2:p.Leu1499=
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