Canonical Allele Identifier: CA341285546
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1503537
ClinVar RCV Id: RCV002045452
dbSNP Id: rs2101162564
MyVariant Identifiers: chr1:g.94577087A>G (hg19) chr1:g.94111531A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111531A>G , CM000663.2:g.94111531A>G GRCh38
NC_000001.10:g.94577087A>G , CM000663.1:g.94577087A>G GRCh37
NC_000001.9:g.94349675A>G NCBI36
NG_009073.1:g.14619T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.209T>C MANE Select ENSP00000359245.3:p.Leu70Pro
ENST00000649773.1:c.209T>C ENSP00000496882.1:p.Leu70Pro
ENST00000370225.3:c.209T>C ENSP00000359245.3:p.Leu70Pro
NM_000350.2:c.209T>C NP_000341.2:p.Leu70Pro
NM_000350.3:c.209T>C MANE Select NP_000341.2:p.Leu70Pro
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