Canonical Allele Identifier: CA227113
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 30218
ClinVar RCV Id: RCV000023141 RCV000085574 RCV000504768 RCV001073572
dbSNP Id: rs61751399
ExAC: 1:94506923 C / T
gnomAD v2: 1-94506923-C-T
gnomAD v3: 1-94041367-C-T
gnomAD v4: 1-94041367-C-T
MyVariant Identifiers: chr1:g.94506923C>T (hg19) chr1:g.94041367C>T (hg38)
PubMed: PMID:9973280 PMID:10396622 PMID:10746567 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041367C>T , CM000663.2:g.94041367C>T GRCh38
NC_000001.10:g.94506923C>T , CM000663.1:g.94506923C>T GRCh37
NC_000001.9:g.94279511C>T NCBI36
NG_009073.1:g.84783G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3364G>A MANE Select ENSP00000359245.3:p.Glu1122Lys
ENST00000370225.3:c.3364G>A ENSP00000359245.3:p.Glu1122Lys
ENST00000536513.5:c.-64-1278G>A ENSP00000439707.2:n.-64-1278G>A
NM_000350.2:c.3364G>A NP_000341.2:p.Glu1122Lys
NM_000350.3:c.3364G>A MANE Select NP_000341.2:p.Glu1122Lys
Search 100 bp 5'
Search 100 bp 3'