Canonical Allele Identifier: CA233403
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 166616
ClinVar RCV Id: RCV000285181 RCV000323858 RCV000376503 RCV000381856 RCV000408525 RCV000416254 RCV000504993 RCV001073617
dbSNP Id: rs113106943
ExAC: 1:94487404 C / T
gnomAD v2: 1-94487404-C-T
gnomAD v3: 1-94021848-C-T
gnomAD v4: 1-94021848-C-T
MyVariant Identifiers: chr1:g.94487404C>T (hg19) chr1:g.94021848C>T (hg38)
PubMed: PMID:24265693 PMID:25346251 PMID:28041643 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021848C>T , CM000663.2:g.94021848C>T GRCh38
NC_000001.10:g.94487404C>T , CM000663.1:g.94487404C>T GRCh37
NC_000001.9:g.94259992C>T NCBI36
NG_009073.1:g.104302G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4771G>A MANE Select ENSP00000359245.3:p.Gly1591Arg
ENST00000370225.3:c.4771G>A ENSP00000359245.3:p.Gly1591Arg
ENST00000460514.1:n.265G>A
ENST00000536513.5:c.1147G>A ENSP00000439707.2:p.Gly383Arg
NM_000350.2:c.4771G>A NP_000341.2:p.Gly1591Arg
NM_000350.3:c.4771G>A MANE Select NP_000341.2:p.Gly1591Arg
Search 100 bp 5'
Search 100 bp 3'