Canonical Allele Identifier: CA341291228
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1364391
ClinVar RCV Id: RCV001905372
dbSNP Id: rs2101048716
gnomAD v4: 1-94041370-C-G
MyVariant Identifiers: chr1:g.94506926C>G (hg19) chr1:g.94041370C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041370C>G , CM000663.2:g.94041370C>G GRCh38
NC_000001.10:g.94506926C>G , CM000663.1:g.94506926C>G GRCh37
NC_000001.9:g.94279514C>G NCBI36
NG_009073.1:g.84780G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3361G>C MANE Select ENSP00000359245.3:p.Asp1121His
ENST00000370225.3:c.3361G>C ENSP00000359245.3:p.Asp1121His
ENST00000536513.5:c.-64-1281G>C ENSP00000439707.2:n.-64-1281G>C
NM_000350.2:c.3361G>C NP_000341.2:p.Asp1121His
NM_000350.3:c.3361G>C MANE Select NP_000341.2:p.Asp1121His
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