Canonical Allele Identifier: CA341278331
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2105771
ClinVar RCV Id: RCV003023628
MyVariant Identifiers: chr1:g.94467517A>G (hg19) chr1:g.94001961A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001961A>G , CM000663.2:g.94001961A>G GRCh38
NC_000001.10:g.94467517A>G , CM000663.1:g.94467517A>G GRCh37
NC_000001.9:g.94240105A>G NCBI36
NG_009073.1:g.124189T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6179T>C MANE Select ENSP00000359245.3:p.Leu2060Pro
ENST00000370225.3:c.6179T>C ENSP00000359245.3:p.Leu2060Pro
ENST00000465352.1:n.595T>C
ENST00000536513.5:c.2555T>C ENSP00000439707.2:p.Leu852Pro
NM_000350.2:c.6179T>C NP_000341.2:p.Leu2060Pro
NM_000350.3:c.6179T>C MANE Select NP_000341.2:p.Leu2060Pro
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