Canonical Allele Identifier: CA341292011
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213969
ClinVar RCV Id: RCV003120640 RCV001591912
dbSNP Id: rs776773510
MyVariant Identifiers: chr1:g.94508349G>C (hg19) chr1:g.94042793G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042793G>C , CM000663.2:g.94042793G>C GRCh38
NC_000001.10:g.94508349G>C , CM000663.1:g.94508349G>C GRCh37
NC_000001.9:g.94280937G>C NCBI36
NG_009073.1:g.83357C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3296C>G MANE Select ENSP00000359245.3:p.Ser1099Ter
ENST00000370225.3:c.3296C>G ENSP00000359245.3:p.Ser1099Ter
ENST00000536513.5:c.-64-2704C>G ENSP00000439707.2:n.-64-2704C>G
NM_000350.2:c.3296C>G NP_000341.2:p.Ser1099Ter
NM_000350.3:c.3296C>G MANE Select NP_000341.2:p.Ser1099Ter
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