Canonical Allele Identifier: CA958360
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2779361
ClinVar RCV Id: RCV003663560
dbSNP Id: rs773768563
ExAC: 1:94526204 C / T
gnomAD v2: 1-94526204-C-T
gnomAD v3: 1-94060648-C-T
gnomAD v4: 1-94060648-C-T
COSMIC: COSM2260664 COSM4243011
MyVariant Identifiers: chr1:g.94526204C>T (hg19) chr1:g.94060648C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060648C>T , CM000663.2:g.94060648C>T GRCh38
NC_000001.10:g.94526204C>T , CM000663.1:g.94526204C>T GRCh37
NC_000001.9:g.94298792C>T NCBI36
NG_009073.1:g.65502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2049G>A MANE Select ENSP00000359245.3:p.Lys683=
ENST00000649773.1:c.2049G>A ENSP00000496882.1:p.Lys683=
ENST00000370225.3:c.2049G>A ENSP00000359245.3:p.Lys683=
ENST00000472033.1:n.169G>A
ENST00000536513.5:c.-65+2526G>A ENSP00000439707.2:n.-65+2526G>A
NM_000350.2:c.2049G>A NP_000341.2:p.Lys683=
NM_000350.3:c.2049G>A MANE Select NP_000341.2:p.Lys683=
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