Canonical Allele Identifier: CA418808399
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1295845635
gnomAD v2: 1-94463495-C-T
gnomAD v4: 1-93997939-C-T
MyVariant Identifiers: chr1:g.94463495C>T (hg19) chr1:g.93997939C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997939C>T , CM000663.2:g.93997939C>T GRCh38
NC_000001.10:g.94463495C>T , CM000663.1:g.94463495C>T GRCh37
NC_000001.9:g.94236083C>T NCBI36
NG_009073.1:g.128211G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6651G>A MANE Select ENSP00000359245.3:p.Arg2217=
ENST00000370225.3:c.6651G>A ENSP00000359245.3:p.Arg2217=
ENST00000536513.5:c.3027G>A ENSP00000439707.2:p.Arg1009=
NM_000350.2:c.6651G>A NP_000341.2:p.Arg2217=
NM_000350.3:c.6651G>A MANE Select NP_000341.2:p.Arg2217=
Search 100 bp 5'
Search 100 bp 3'