Canonical Allele Identifier: CA341275596
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1277583380
gnomAD v3: 1-94047076-C-T
gnomAD v4: 1-94047076-C-T
MyVariant Identifiers: chr1:g.94512632C>T (hg19) chr1:g.94047076C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047076C>T , CM000663.2:g.94047076C>T GRCh38
NC_000001.10:g.94512632C>T , CM000663.1:g.94512632C>T GRCh37
NC_000001.9:g.94285220C>T NCBI36
NG_009073.1:g.79074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2761G>A MANE Select ENSP00000359245.3:p.Glu921Lys
ENST00000649773.1:c.2539G>A ENSP00000496882.1:p.Glu847Lys
ENST00000370225.3:c.2761G>A ENSP00000359245.3:p.Glu921Lys
ENST00000536513.5:c.-64-6987G>A ENSP00000439707.2:n.-64-6987G>A
NM_000350.2:c.2761G>A NP_000341.2:p.Glu921Lys
NM_000350.3:c.2761G>A MANE Select NP_000341.2:p.Glu921Lys
Search 100 bp 5'
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