Canonical Allele Identifier: CA418808296
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2817904
ClinVar RCV Id: RCV003711465
MyVariant Identifiers: chr1:g.94463471G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997915G>A , CM000663.2:g.93997915G>A GRCh38
NC_000001.10:g.94463471G>A , CM000663.1:g.94463471G>A GRCh37
NC_000001.9:g.94236059G>A NCBI36
NG_009073.1:g.128235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6675C>T MANE Select ENSP00000359245.3:p.His2225=
ENST00000370225.3:c.6675C>T ENSP00000359245.3:p.His2225=
ENST00000536513.5:c.3051C>T ENSP00000439707.2:p.His1017=
NM_000350.2:c.6675C>T NP_000341.2:p.His2225=
NM_000350.3:c.6675C>T MANE Select NP_000341.2:p.His2225=
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