Canonical Allele Identifier: CA26845237
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134174
ClinVar RCV Id: RCV003044807
dbSNP Id: rs963091295
MyVariant Identifiers: chr1:g.94487428G>T (hg19) chr1:g.94021872G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021872G>T , CM000663.2:g.94021872G>T GRCh38
NC_000001.10:g.94487428G>T , CM000663.1:g.94487428G>T GRCh37
NC_000001.9:g.94260016G>T NCBI36
NG_009073.1:g.104278C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4747C>A MANE Select ENSP00000359245.3:p.Leu1583Ile
ENST00000370225.3:c.4747C>A ENSP00000359245.3:p.Leu1583Ile
ENST00000460514.1:n.241C>A
ENST00000536513.5:c.1123C>A ENSP00000439707.2:p.Leu375Ile
NM_000350.2:c.4747C>A NP_000341.2:p.Leu1583Ile
NM_000350.3:c.4747C>A MANE Select NP_000341.2:p.Leu1583Ile
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