Canonical Allele Identifier: CA341281071
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2077278
ClinVar RCV Id: RCV002985445
MyVariant Identifiers: chr1:g.94476869G>T (hg19) chr1:g.94011313G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011313G>T , CM000663.2:g.94011313G>T GRCh38
NC_000001.10:g.94476869G>T , CM000663.1:g.94476869G>T GRCh37
NC_000001.9:g.94249457G>T NCBI36
NG_009073.1:g.114837C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5533C>A MANE Select ENSP00000359245.3:p.Leu1845Ile
ENST00000370225.3:c.5533C>A ENSP00000359245.3:p.Leu1845Ile
ENST00000536513.5:c.1909C>A ENSP00000439707.2:p.Leu637Ile
NM_000350.2:c.5533C>A NP_000341.2:p.Leu1845Ile
NM_000350.3:c.5533C>A MANE Select NP_000341.2:p.Leu1845Ile
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