Canonical Allele Identifier: CA341277596
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 848704
ClinVar RCV Id: RCV001052521
dbSNP Id: rs1659161479
MyVariant Identifiers: chr1:g.94466642A>C (hg19) chr1:g.94001086A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001086A>C , CM000663.2:g.94001086A>C GRCh38
NC_000001.10:g.94466642A>C , CM000663.1:g.94466642A>C GRCh37
NC_000001.9:g.94239230A>C NCBI36
NG_009073.1:g.125064T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6302T>G MANE Select ENSP00000359245.3:p.Met2101Arg
ENST00000370225.3:c.6302T>G ENSP00000359245.3:p.Met2101Arg
ENST00000536513.5:c.2678T>G ENSP00000439707.2:p.Met893Arg
NM_000350.2:c.6302T>G NP_000341.2:p.Met2101Arg
NM_000350.3:c.6302T>G MANE Select NP_000341.2:p.Met2101Arg
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Search 100 bp 3'