Canonical Allele Identifier: CA418808373
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1942124
ClinVar RCV Id: RCV002653729
dbSNP Id: rs1286626523
gnomAD v2: 1-94463489-G-A
gnomAD v3: 1-93997933-G-A
gnomAD v4: 1-93997933-G-A
MyVariant Identifiers: chr1:g.94463489G>A (hg19) chr1:g.93997933G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997933G>A , CM000663.2:g.93997933G>A GRCh38
NC_000001.10:g.94463489G>A , CM000663.1:g.94463489G>A GRCh37
NC_000001.9:g.94236077G>A NCBI36
NG_009073.1:g.128217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6657C>T MANE Select ENSP00000359245.3:p.Phe2219=
ENST00000370225.3:c.6657C>T ENSP00000359245.3:p.Phe2219=
ENST00000536513.5:c.3033C>T ENSP00000439707.2:p.Phe1011=
NM_000350.2:c.6657C>T NP_000341.2:p.Phe2219=
NM_000350.3:c.6657C>T MANE Select NP_000341.2:p.Phe2219=
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