Canonical Allele Identifier: CA341285193
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1904459
ClinVar RCV Id: RCV002574269
dbSNP Id: rs745321062
gnomAD v2: 1-94495134-T-G
gnomAD v4: 1-94029578-T-G
MyVariant Identifiers: chr1:g.94495134T>G (hg19) chr1:g.94029578T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029578T>G , CM000663.2:g.94029578T>G GRCh38
NC_000001.10:g.94495134T>G , CM000663.1:g.94495134T>G GRCh37
NC_000001.9:g.94267722T>G NCBI36
NG_009073.1:g.96572A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4406A>C MANE Select ENSP00000359245.3:p.Asn1469Thr
ENST00000370225.3:c.4406A>C ENSP00000359245.3:p.Asn1469Thr
ENST00000536513.5:c.782A>C ENSP00000439707.2:p.Asn261Thr
NM_000350.2:c.4406A>C NP_000341.2:p.Asn1469Thr
NM_000350.3:c.4406A>C MANE Select NP_000341.2:p.Asn1469Thr
Search 100 bp 5'
Search 100 bp 3'