Canonical Allele Identifier: CA341285778
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2824513
ClinVar RCV Id: RCV003678260
gnomAD v4: 1-94030473-T-A
MyVariant Identifiers: chr1:g.94496029T>A (hg19) chr1:g.94030473T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030473T>A , CM000663.2:g.94030473T>A GRCh38
NC_000001.10:g.94496029T>A , CM000663.1:g.94496029T>A GRCh37
NC_000001.9:g.94268617T>A NCBI36
NG_009073.1:g.95677A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4307A>T MANE Select ENSP00000359245.3:p.Asn1436Ile
ENST00000370225.3:c.4307A>T ENSP00000359245.3:p.Asn1436Ile
ENST00000536513.5:c.683A>T ENSP00000439707.2:p.Asn228Ile
NM_000350.2:c.4307A>T NP_000341.2:p.Asn1436Ile
NM_000350.3:c.4307A>T MANE Select NP_000341.2:p.Asn1436Ile
Search 100 bp 5'
Search 100 bp 3'