Canonical Allele Identifier: CA958424
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 964214
ClinVar RCV Id: RCV001238398
dbSNP Id: rs779659025
ExAC: 1:94528297 A / T
gnomAD v2: 1-94528297-A-T
gnomAD v3: 1-94062741-A-T
gnomAD v4: 1-94062741-A-T
MyVariant Identifiers: chr1:g.94528297A>T (hg19) chr1:g.94062741A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062741A>T , CM000663.2:g.94062741A>T GRCh38
NC_000001.10:g.94528297A>T , CM000663.1:g.94528297A>T GRCh37
NC_000001.9:g.94300885A>T NCBI36
NG_009073.1:g.63409T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1773T>A MANE Select ENSP00000359245.3:p.Ser591=
ENST00000649773.1:c.1773T>A ENSP00000496882.1:p.Ser591=
ENST00000370225.3:c.1773T>A ENSP00000359245.3:p.Ser591=
ENST00000536513.5:c.-65+433T>A ENSP00000439707.2:n.-65+433T>A
NM_000350.2:c.1773T>A NP_000341.2:p.Ser591=
NM_000350.3:c.1773T>A MANE Select NP_000341.2:p.Ser591=
Search 100 bp 5'
Search 100 bp 3'