Canonical Allele Identifier: CA418826667
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2023466
ClinVar RCV Id: RCV002857969
MyVariant Identifiers: chr1:g.94508898G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043342G>A , CM000663.2:g.94043342G>A GRCh38
NC_000001.10:g.94508898G>A , CM000663.1:g.94508898G>A GRCh37
NC_000001.9:g.94281486G>A NCBI36
NG_009073.1:g.82808C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3184C>T MANE Select ENSP00000359245.3:p.Leu1062=
ENST00000370225.3:c.3184C>T ENSP00000359245.3:p.Leu1062=
ENST00000536513.5:c.-64-3253C>T ENSP00000439707.2:n.-64-3253C>T
NM_000350.2:c.3184C>T NP_000341.2:p.Leu1062=
NM_000350.3:c.3184C>T MANE Select NP_000341.2:p.Leu1062=
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