Canonical Allele Identifier: CA418812094
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs61750645
gnomAD v2: 1-94467467-G-T
gnomAD v3: 1-94001911-G-T
gnomAD v4: 1-94001911-G-T
MyVariant Identifiers: chr1:g.94467467G>T (hg19) chr1:g.94001911G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001911G>T , CM000663.2:g.94001911G>T GRCh38
NC_000001.10:g.94467467G>T , CM000663.1:g.94467467G>T GRCh37
NC_000001.9:g.94240055G>T NCBI36
NG_009073.1:g.124239C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6229C>A MANE Select ENSP00000359245.3:p.Arg2077=
ENST00000370225.3:c.6229C>A ENSP00000359245.3:p.Arg2077=
ENST00000465352.1:n.645C>A
ENST00000536513.5:c.2605C>A ENSP00000439707.2:p.Arg869=
NM_000350.2:c.6229C>A NP_000341.2:p.Arg2077=
NM_000350.3:c.6229C>A MANE Select NP_000341.2:p.Arg2077=
Search 100 bp 5'
Search 100 bp 3'