Canonical Allele Identifier: CA957986
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 938220
ClinVar RCV Id: RCV001207400
dbSNP Id: rs143689372
ExAC: 1:94508340 T / A
gnomAD v2: 1-94508340-T-A
gnomAD v3: 1-94042784-T-A
gnomAD v4: 1-94042784-T-A
MyVariant Identifiers: chr1:g.94508340T>A (hg19) chr1:g.94042784T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042784T>A , CM000663.2:g.94042784T>A GRCh38
NC_000001.10:g.94508340T>A , CM000663.1:g.94508340T>A GRCh37
NC_000001.9:g.94280928T>A NCBI36
NG_009073.1:g.83366A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3305A>T MANE Select ENSP00000359245.3:p.Asp1102Val
ENST00000370225.3:c.3305A>T ENSP00000359245.3:p.Asp1102Val
ENST00000536513.5:c.-64-2695A>T ENSP00000439707.2:n.-64-2695A>T
NM_000350.2:c.3305A>T NP_000341.2:p.Asp1102Val
NM_000350.3:c.3305A>T MANE Select NP_000341.2:p.Asp1102Val
Search 100 bp 5'
Search 100 bp 3'