Canonical Allele Identifier: CA957422
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 871794
ClinVar RCV Id: RCV001091941
dbSNP Id: rs762754528
ExAC: 1:94486866 C / T
gnomAD v2: 1-94486866-C-T
gnomAD v3: 1-94021310-C-T
gnomAD v4: 1-94021310-C-T
MyVariant Identifiers: chr1:g.94486866C>T (hg19) chr1:g.94021310C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021310C>T , CM000663.2:g.94021310C>T GRCh38
NC_000001.10:g.94486866C>T , CM000663.1:g.94486866C>T GRCh37
NC_000001.9:g.94259454C>T NCBI36
NG_009073.1:g.104840G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4948G>A MANE Select ENSP00000359245.3:p.Glu1650Lys
ENST00000370225.3:c.4948G>A ENSP00000359245.3:p.Glu1650Lys
ENST00000460514.1:n.442G>A
ENST00000470771.1:n.58G>A
ENST00000536513.5:c.1324G>A ENSP00000439707.2:p.Glu442Lys
NM_000350.2:c.4948G>A NP_000341.2:p.Glu1650Lys
NM_000350.3:c.4948G>A MANE Select NP_000341.2:p.Glu1650Lys
Search 100 bp 5'
Search 100 bp 3'