Canonical Allele Identifier: CA10602432
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236110
ClinVar RCV Id: RCV000408462 RCV000504972 RCV000515660 RCV001854783
dbSNP Id: rs61750138
gnomAD v2: 1-94496547-C-T
gnomAD v3: 1-94030991-C-T
gnomAD v4: 1-94030991-C-T
MyVariant Identifiers: chr1:g.94496547C>T (hg19) chr1:g.94030991C>T (hg38)
PubMed: PMID:10958763 PMID:25525159 PMID:28041643 PMID:28118664
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030991C>T , CM000663.2:g.94030991C>T GRCh38
NC_000001.10:g.94496547C>T , CM000663.1:g.94496547C>T GRCh37
NC_000001.9:g.94269135C>T NCBI36
NG_009073.1:g.95159G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4253+5G>A MANE Select ENSP00000359245.3:n.4253+5G>A
ENST00000370225.3:c.4253+5G>A ENSP00000359245.3:n.4253+5G>A
ENST00000536513.5:c.629+5G>A ENSP00000439707.2:n.629+5G>A
NM_000350.2:c.4253+5G>A NP_000341.2:n.4253+5G>A
NM_000350.3:c.4253+5G>A MANE Select NP_000341.2:n.4253+5G>A
Search 100 bp 5'
Search 100 bp 3'