Canonical Allele Identifier: CA341281069
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 874748
ClinVar RCV Id: RCV001097977
dbSNP Id: rs1659540392
gnomAD v4: 1-94011313-G-A
MyVariant Identifiers: chr1:g.94476869G>A (hg19) chr1:g.94011313G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5533C>T MANE Select ENSP00000359245.3:p.Leu1845Phe
ENST00000370225.3:c.5533C>T ENSP00000359245.3:p.Leu1845Phe
ENST00000536513.5:c.1909C>T ENSP00000439707.2:p.Leu637Phe
NM_000350.2:c.5533C>T NP_000341.2:p.Leu1845Phe
NM_000350.3:c.5533C>T MANE Select NP_000341.2:p.Leu1845Phe
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