Canonical Allele Identifier: CA341278639
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94526197A>C (hg19) chr1:g.94060641A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060641A>C , CM000663.2:g.94060641A>C GRCh38
NC_000001.10:g.94526197A>C , CM000663.1:g.94526197A>C GRCh37
NC_000001.9:g.94298785A>C NCBI36
NG_009073.1:g.65509T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2056T>G MANE Select ENSP00000359245.3:p.Leu686Val
ENST00000649773.1:c.2056T>G ENSP00000496882.1:p.Leu686Val
ENST00000370225.3:c.2056T>G ENSP00000359245.3:p.Leu686Val
ENST00000472033.1:n.176T>G
ENST00000536513.5:c.-65+2533T>G ENSP00000439707.2:n.-65+2533T>G
NM_000350.2:c.2056T>G NP_000341.2:p.Leu686Val
NM_000350.3:c.2056T>G MANE Select NP_000341.2:p.Leu686Val
Search 100 bp 5'
Search 100 bp 3'