Canonical Allele Identifier: CA418826662
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94508896T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043340T>C , CM000663.2:g.94043340T>C GRCh38
NC_000001.10:g.94508896T>C , CM000663.1:g.94508896T>C GRCh37
NC_000001.9:g.94281484T>C NCBI36
NG_009073.1:g.82810A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3186A>G MANE Select ENSP00000359245.3:p.Leu1062=
ENST00000370225.3:c.3186A>G ENSP00000359245.3:p.Leu1062=
ENST00000536513.5:c.-64-3251A>G ENSP00000439707.2:n.-64-3251A>G
NM_000350.2:c.3186A>G NP_000341.2:p.Leu1062=
NM_000350.3:c.3186A>G MANE Select NP_000341.2:p.Leu1062=
Search 100 bp 5'
Search 100 bp 3'