Canonical Allele Identifier: CA341291327
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213963
ClinVar RCV Id: RCV001591906
dbSNP Id: rs376947008
MyVariant Identifiers: chr1:g.94506943A>C (hg19) chr1:g.94041387A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041387A>C , CM000663.2:g.94041387A>C GRCh38
NC_000001.10:g.94506943A>C , CM000663.1:g.94506943A>C GRCh37
NC_000001.9:g.94279531A>C NCBI36
NG_009073.1:g.84763T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3344T>G MANE Select ENSP00000359245.3:p.Met1115Arg
ENST00000370225.3:c.3344T>G ENSP00000359245.3:p.Met1115Arg
ENST00000536513.5:c.-64-1298T>G ENSP00000439707.2:n.-64-1298T>G
NM_000350.2:c.3344T>G NP_000341.2:p.Met1115Arg
NM_000350.3:c.3344T>G MANE Select NP_000341.2:p.Met1115Arg
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Search 100 bp 3'