Canonical Allele Identifier: CA418821701
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2145597
ClinVar RCV Id: RCV003065114
dbSNP Id: rs1441088733
gnomAD v2: 1-94486861-C-T
gnomAD v3: 1-94021305-C-T
gnomAD v4: 1-94021305-C-T
MyVariant Identifiers: chr1:g.94486861C>T (hg19) chr1:g.94021305C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021305C>T , CM000663.2:g.94021305C>T GRCh38
NC_000001.10:g.94486861C>T , CM000663.1:g.94486861C>T GRCh37
NC_000001.9:g.94259449C>T NCBI36
NG_009073.1:g.104845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4953G>A MANE Select ENSP00000359245.3:p.Glu1651=
ENST00000370225.3:c.4953G>A ENSP00000359245.3:p.Glu1651=
ENST00000460514.1:n.447G>A
ENST00000470771.1:n.63G>A
ENST00000536513.5:c.1329G>A ENSP00000439707.2:p.Glu443=
NM_000350.2:c.4953G>A NP_000341.2:p.Glu1651=
NM_000350.3:c.4953G>A MANE Select NP_000341.2:p.Glu1651=
Search 100 bp 5'
Search 100 bp 3'