Canonical Allele Identifier: CA956824
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 948653
ClinVar RCV Id: RCV001219955
dbSNP Id: rs774350716
ExAC: 1:94463452 C / T
gnomAD v2: 1-94463452-C-T
gnomAD v3: 1-93997896-C-T
gnomAD v4: 1-93997896-C-T
MyVariant Identifiers: chr1:g.94463452C>T (hg19) chr1:g.93997896C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997896C>T , CM000663.2:g.93997896C>T GRCh38
NC_000001.10:g.94463452C>T , CM000663.1:g.94463452C>T GRCh37
NC_000001.9:g.94236040C>T NCBI36
NG_009073.1:g.128254G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6694G>A MANE Select ENSP00000359245.3:p.Glu2232Lys
ENST00000370225.3:c.6694G>A ENSP00000359245.3:p.Glu2232Lys
ENST00000536513.5:c.3070G>A ENSP00000439707.2:p.Glu1024Lys
NM_000350.2:c.6694G>A NP_000341.2:p.Glu2232Lys
NM_000350.3:c.6694G>A MANE Select NP_000341.2:p.Glu2232Lys
Search 100 bp 5'
Search 100 bp 3'