Canonical Allele Identifier: CA957596
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 730660
ClinVar RCV Id: RCV000905492
dbSNP Id: rs143272984
ExAC: 1:94495037 C / G
gnomAD v2: 1-94495037-C-G
gnomAD v3: 1-94029481-C-G
gnomAD v4: 1-94029481-C-G
MyVariant Identifiers: chr1:g.94495037C>G (hg19) chr1:g.94029481C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029481C>G , CM000663.2:g.94029481C>G GRCh38
NC_000001.10:g.94495037C>G , CM000663.1:g.94495037C>G GRCh37
NC_000001.9:g.94267625C>G NCBI36
NG_009073.1:g.96669G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4503G>C MANE Select ENSP00000359245.3:p.Glu1501Asp
ENST00000370225.3:c.4503G>C ENSP00000359245.3:p.Glu1501Asp
ENST00000536513.5:c.879G>C ENSP00000439707.2:p.Glu293Asp
NM_000350.2:c.4503G>C NP_000341.2:p.Glu1501Asp
NM_000350.3:c.4503G>C MANE Select NP_000341.2:p.Glu1501Asp
Search 100 bp 5'
Search 100 bp 3'