Canonical Allele Identifier: CA418811571
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1570377939
gnomAD v4: 1-94046963-G-T
MyVariant Identifiers: chr1:g.94512519G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046963G>T , CM000663.2:g.94046963G>T GRCh38
NC_000001.10:g.94512519G>T , CM000663.1:g.94512519G>T GRCh37
NC_000001.9:g.94285107G>T NCBI36
NG_009073.1:g.79187C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2874C>A MANE Select ENSP00000359245.3:p.Ile958=
ENST00000649773.1:c.2652C>A ENSP00000496882.1:p.Ile884=
ENST00000370225.3:c.2874C>A ENSP00000359245.3:p.Ile958=
ENST00000536513.5:c.-64-6874C>A ENSP00000439707.2:n.-64-6874C>A
NM_000350.2:c.2874C>A NP_000341.2:p.Ile958=
NM_000350.3:c.2874C>A MANE Select NP_000341.2:p.Ile958=
Search 100 bp 5'
Search 100 bp 3'