Canonical Allele Identifier: CA418813849
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473207G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007651G>C , CM000663.2:g.94007651G>C GRCh38
NC_000001.10:g.94473207G>C , CM000663.1:g.94473207G>C GRCh37
NC_000001.9:g.94245795G>C NCBI36
NG_009073.1:g.118499C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5988C>G MANE Select ENSP00000359245.3:p.Ala1996=
ENST00000370225.3:c.5988C>G ENSP00000359245.3:p.Ala1996=
ENST00000465352.1:n.404C>G
ENST00000484388.1:n.102C>G
ENST00000536513.5:c.2364C>G ENSP00000439707.2:p.Ala788=
NM_000350.2:c.5988C>G NP_000341.2:p.Ala1996=
NM_000350.3:c.5988C>G MANE Select NP_000341.2:p.Ala1996=
Search 100 bp 5'
Search 100 bp 3'