Canonical Allele Identifier: CA418826228
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2980137
ClinVar RCV Id: RCV003837311
dbSNP Id: rs781521866
gnomAD v2: 1-94506779-T-G
gnomAD v3: 1-94041223-T-G
gnomAD v4: 1-94041223-T-G
MyVariant Identifiers: chr1:g.94506779T>G (hg19) chr1:g.94041223T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041223T>G , CM000663.2:g.94041223T>G GRCh38
NC_000001.10:g.94506779T>G , CM000663.1:g.94506779T>G GRCh37
NC_000001.9:g.94279367T>G NCBI36
NG_009073.1:g.84927A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3508A>C MANE Select ENSP00000359245.3:p.Arg1170=
ENST00000370225.3:c.3508A>C ENSP00000359245.3:p.Arg1170=
ENST00000536513.5:c.-64-1134A>C ENSP00000439707.2:n.-64-1134A>C
NM_000350.2:c.3508A>C NP_000341.2:p.Arg1170=
NM_000350.3:c.3508A>C MANE Select NP_000341.2:p.Arg1170=
Search 100 bp 5'
Search 100 bp 3'