Canonical Allele Identifier: CA958129
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 424902
ClinVar RCV Id: RCV000488184 RCV001099950 RCV001199608 RCV003235244
dbSNP Id: rs368846708
ExAC: 1:94512518 T / A
gnomAD v2: 1-94512518-T-A
gnomAD v3: 1-94046962-T-A
gnomAD v4: 1-94046962-T-A
MyVariant Identifiers: chr1:g.94512518T>A (hg19) chr1:g.94046962T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2875A>T MANE Select ENSP00000359245.3:p.Thr959Ser
ENST00000649773.1:c.2653A>T ENSP00000496882.1:p.Thr885Ser
ENST00000370225.3:c.2875A>T ENSP00000359245.3:p.Thr959Ser
ENST00000536513.5:c.-64-6873A>T ENSP00000439707.2:n.-64-6873A>T
NM_000350.2:c.2875A>T NP_000341.2:p.Thr959Ser
NM_000350.3:c.2875A>T MANE Select NP_000341.2:p.Thr959Ser
Search 100 bp 5'
Search 100 bp 3'