Canonical Allele Identifier: CA958130
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236095
ClinVar RCV Id: RCV000278622 RCV000323631 RCV000338922 RCV000373695 RCV000408538 RCV000425865 RCV000778260
dbSNP Id: rs368846708
ExAC: 1:94512518 T / C
gnomAD v2: 1-94512518-T-C
gnomAD v3: 1-94046962-T-C
gnomAD v4: 1-94046962-T-C
MyVariant Identifiers: chr1:g.94512518T>C (hg19) chr1:g.94046962T>C (hg38)
PubMed: PMID:23096905 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046962T>C , CM000663.2:g.94046962T>C GRCh38
NC_000001.10:g.94512518T>C , CM000663.1:g.94512518T>C GRCh37
NC_000001.9:g.94285106T>C NCBI36
NG_009073.1:g.79188A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2875A>G MANE Select ENSP00000359245.3:p.Thr959Ala
ENST00000649773.1:c.2653A>G ENSP00000496882.1:p.Thr885Ala
ENST00000370225.3:c.2875A>G ENSP00000359245.3:p.Thr959Ala
ENST00000536513.5:c.-64-6873A>G ENSP00000439707.2:n.-64-6873A>G
NM_000350.2:c.2875A>G NP_000341.2:p.Thr959Ala
NM_000350.3:c.2875A>G MANE Select NP_000341.2:p.Thr959Ala
Search 100 bp 5'
Search 100 bp 3'