Canonical Allele Identifier: CA418821679
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486837T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021281T>C , CM000663.2:g.94021281T>C GRCh38
NC_000001.10:g.94486837T>C , CM000663.1:g.94486837T>C GRCh37
NC_000001.9:g.94259425T>C NCBI36
NG_009073.1:g.104869A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4977A>G MANE Select ENSP00000359245.3:p.Gln1659=
ENST00000370225.3:c.4977A>G ENSP00000359245.3:p.Gln1659=
ENST00000460514.1:n.471A>G
ENST00000470771.1:n.87A>G
ENST00000536513.5:c.1353A>G ENSP00000439707.2:p.Gln451=
NM_000350.2:c.4977A>G NP_000341.2:p.Gln1659=
NM_000350.3:c.4977A>G MANE Select NP_000341.2:p.Gln1659=
Search 100 bp 5'
Search 100 bp 3'