Canonical Allele Identifier: CA341278279
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1461858
ClinVar RCV Id: RCV001968177
dbSNP Id: rs2100995579
MyVariant Identifiers: chr1:g.94467490C>T (hg19) chr1:g.94001934C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001934C>T , CM000663.2:g.94001934C>T GRCh38
NC_000001.10:g.94467490C>T , CM000663.1:g.94467490C>T GRCh37
NC_000001.9:g.94240078C>T NCBI36
NG_009073.1:g.124216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6206G>A MANE Select ENSP00000359245.3:p.Gly2069Asp
ENST00000370225.3:c.6206G>A ENSP00000359245.3:p.Gly2069Asp
ENST00000465352.1:n.622G>A
ENST00000536513.5:c.2582G>A ENSP00000439707.2:p.Gly861Asp
NM_000350.2:c.6206G>A NP_000341.2:p.Gly2069Asp
NM_000350.3:c.6206G>A MANE Select NP_000341.2:p.Gly2069Asp
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