Canonical Allele Identifier: CA227231
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99315
ClinVar RCV Id: RCV000085668
dbSNP Id: rs61754055
ExAC: 1:94487429 G / A
gnomAD v2: 1-94487429-G-A
gnomAD v3: 1-94021873-G-A
gnomAD v4: 1-94021873-G-A
MyVariant Identifiers: chr1:g.94487429G>A (hg19) chr1:g.94021873G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021873G>A , CM000663.2:g.94021873G>A GRCh38
NC_000001.10:g.94487429G>A , CM000663.1:g.94487429G>A GRCh37
NC_000001.9:g.94260017G>A NCBI36
NG_009073.1:g.104277C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4746C>T MANE Select ENSP00000359245.3:p.Asp1582=
ENST00000370225.3:c.4746C>T ENSP00000359245.3:p.Asp1582=
ENST00000460514.1:n.240C>T
ENST00000536513.5:c.1122C>T ENSP00000439707.2:p.Asp374=
NM_000350.2:c.4746C>T NP_000341.2:p.Asp1582=
NM_000350.3:c.4746C>T MANE Select NP_000341.2:p.Asp1582=
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Search 100 bp 3'