Canonical Allele Identifier: CA341277490
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1367443683
gnomAD v2: 1-94466589-C-T
gnomAD v4: 1-94001033-C-T
MyVariant Identifiers: chr1:g.94466589C>T (hg19) chr1:g.94001033C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001033C>T , CM000663.2:g.94001033C>T GRCh38
NC_000001.10:g.94466589C>T , CM000663.1:g.94466589C>T GRCh37
NC_000001.9:g.94239177C>T NCBI36
NG_009073.1:g.125117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6355G>A MANE Select ENSP00000359245.3:p.Glu2119Lys
ENST00000370225.3:c.6355G>A ENSP00000359245.3:p.Glu2119Lys
ENST00000536513.5:c.2731G>A ENSP00000439707.2:p.Glu911Lys
NM_000350.2:c.6355G>A NP_000341.2:p.Glu2119Lys
NM_000350.3:c.6355G>A MANE Select NP_000341.2:p.Glu2119Lys
Search 100 bp 5'
Search 100 bp 3'