Canonical Allele Identifier: CA227107
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99218
ClinVar RCV Id: RCV000085569 RCV000505014
dbSNP Id: rs61752419
MyVariant Identifiers: chr1:g.94508342C>T (hg19) chr1:g.94042786C>T (hg38)
PubMed: PMID:11379881 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042786C>T , CM000663.2:g.94042786C>T GRCh38
NC_000001.10:g.94508342C>T , CM000663.1:g.94508342C>T GRCh37
NC_000001.9:g.94280930C>T NCBI36
NG_009073.1:g.83364G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3303G>A MANE Select ENSP00000359245.3:p.Trp1101Ter
ENST00000370225.3:c.3303G>A ENSP00000359245.3:p.Trp1101Ter
ENST00000536513.5:c.-64-2697G>A ENSP00000439707.2:n.-64-2697G>A
NM_000350.2:c.3303G>A NP_000341.2:p.Trp1101Ter
NM_000350.3:c.3303G>A MANE Select NP_000341.2:p.Trp1101Ter
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