Canonical Allele Identifier: CA418812172
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2712253
ClinVar RCV Id: RCV003545729
dbSNP Id: rs1368610622
gnomAD v2: 1-94467486-C-A
gnomAD v3: 1-94001930-C-A
gnomAD v4: 1-94001930-C-A
COSMIC: COSM5964621 COSM5964622
MyVariant Identifiers: chr1:g.94467486C>A (hg19) chr1:g.94001930C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001930C>A , CM000663.2:g.94001930C>A GRCh38
NC_000001.10:g.94467486C>A , CM000663.1:g.94467486C>A GRCh37
NC_000001.9:g.94240074C>A NCBI36
NG_009073.1:g.124220G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6210G>T MANE Select ENSP00000359245.3:p.Thr2070=
ENST00000370225.3:c.6210G>T ENSP00000359245.3:p.Thr2070=
ENST00000465352.1:n.626G>T
ENST00000536513.5:c.2586G>T ENSP00000439707.2:p.Thr862=
NM_000350.2:c.6210G>T NP_000341.2:p.Thr2070=
NM_000350.3:c.6210G>T MANE Select NP_000341.2:p.Thr2070=
Search 100 bp 5'
Search 100 bp 3'