Canonical Allele Identifier: CA418826260
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94506807C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041251C>A , CM000663.2:g.94041251C>A GRCh38
NC_000001.10:g.94506807C>A , CM000663.1:g.94506807C>A GRCh37
NC_000001.9:g.94279395C>A NCBI36
NG_009073.1:g.84899G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3480G>T MANE Select ENSP00000359245.3:p.Val1160=
ENST00000370225.3:c.3480G>T ENSP00000359245.3:p.Val1160=
ENST00000536513.5:c.-64-1162G>T ENSP00000439707.2:n.-64-1162G>T
NM_000350.2:c.3480G>T NP_000341.2:p.Val1160=
NM_000350.3:c.3480G>T MANE Select NP_000341.2:p.Val1160=
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Search 100 bp 3'