Canonical Allele Identifier: CA418821732
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2802117
ClinVar RCV Id: RCV003676503
gnomAD v4: 1-94021353-G-A
MyVariant Identifiers: chr1:g.94486909G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021353G>A , CM000663.2:g.94021353G>A GRCh38
NC_000001.10:g.94486909G>A , CM000663.1:g.94486909G>A GRCh37
NC_000001.9:g.94259497G>A NCBI36
NG_009073.1:g.104797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4905C>T MANE Select ENSP00000359245.3:p.His1635=
ENST00000370225.3:c.4905C>T ENSP00000359245.3:p.His1635=
ENST00000460514.1:n.399C>T
ENST00000470771.1:n.15C>T
ENST00000536513.5:c.1281C>T ENSP00000439707.2:p.His427=
NM_000350.2:c.4905C>T NP_000341.2:p.His1635=
NM_000350.3:c.4905C>T MANE Select NP_000341.2:p.His1635=
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