Canonical Allele Identifier: CA341275370
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1213983
ClinVar RCV Id: RCV001591926
dbSNP Id: rs754082669
MyVariant Identifiers: chr1:g.94512520A>T (hg19) chr1:g.94046964A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046964A>T , CM000663.2:g.94046964A>T GRCh38
NC_000001.10:g.94512520A>T , CM000663.1:g.94512520A>T GRCh37
NC_000001.9:g.94285108A>T NCBI36
NG_009073.1:g.79186T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2873T>A MANE Select ENSP00000359245.3:p.Ile958Asn
ENST00000649773.1:c.2651T>A ENSP00000496882.1:p.Ile884Asn
ENST00000370225.3:c.2873T>A ENSP00000359245.3:p.Ile958Asn
ENST00000536513.5:c.-64-6875T>A ENSP00000439707.2:n.-64-6875T>A
NM_000350.2:c.2873T>A NP_000341.2:p.Ile958Asn
NM_000350.3:c.2873T>A MANE Select NP_000341.2:p.Ile958Asn
Search 100 bp 5'
Search 100 bp 3'