Canonical Allele Identifier: CA418821750
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021377-C-T
MyVariant Identifiers: chr1:g.94486933C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021377C>T , CM000663.2:g.94021377C>T GRCh38
NC_000001.10:g.94486933C>T , CM000663.1:g.94486933C>T GRCh37
NC_000001.9:g.94259521C>T NCBI36
NG_009073.1:g.104773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4881G>A MANE Select ENSP00000359245.3:p.Leu1627=
ENST00000370225.3:c.4881G>A ENSP00000359245.3:p.Leu1627=
ENST00000460514.1:n.375G>A
ENST00000536513.5:c.1257G>A ENSP00000439707.2:p.Leu419=
NM_000350.2:c.4881G>A NP_000341.2:p.Leu1627=
NM_000350.3:c.4881G>A MANE Select NP_000341.2:p.Leu1627=
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