Canonical Allele Identifier: CA957956
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 961495
ClinVar RCV Id: RCV001235193
dbSNP Id: rs369440533
ExAC: 1:94506935 G / A
gnomAD v2: 1-94506935-G-A
gnomAD v3: 1-94041379-G-A
gnomAD v4: 1-94041379-G-A
MyVariant Identifiers: chr1:g.94506935G>A (hg19) chr1:g.94041379G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041379G>A , CM000663.2:g.94041379G>A GRCh38
NC_000001.10:g.94506935G>A , CM000663.1:g.94506935G>A GRCh37
NC_000001.9:g.94279523G>A NCBI36
NG_009073.1:g.84771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3352C>T MANE Select ENSP00000359245.3:p.His1118Tyr
ENST00000370225.3:c.3352C>T ENSP00000359245.3:p.His1118Tyr
ENST00000536513.5:c.-64-1290C>T ENSP00000439707.2:n.-64-1290C>T
NM_000350.2:c.3352C>T NP_000341.2:p.His1118Tyr
NM_000350.3:c.3352C>T MANE Select NP_000341.2:p.His1118Tyr
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