Canonical Allele Identifier: CA958501
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 283387
ClinVar RCV Id: RCV000264059 RCV000270788 RCV000512657 RCV000328209 RCV000844930 RCV000385092 RCV001073584 RCV001102037 RCV000505101
dbSNP Id: rs140482171
ExAC: 1:94543268 C / T
gnomAD v2: 1-94543268-C-T
gnomAD v3: 1-94077712-C-T
gnomAD v4: 1-94077712-C-T
COSMIC: COSM1181247
MyVariant Identifiers: chr1:g.94543268C>T (hg19) chr1:g.94077712C>T (hg38)
PubMed: PMID:22661472 PMID:23891399 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94077712C>T , CM000663.2:g.94077712C>T GRCh38
NC_000001.10:g.94543268C>T , CM000663.1:g.94543268C>T GRCh37
NC_000001.9:g.94315856C>T NCBI36
NG_009073.1:g.48438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1532G>A MANE Select ENSP00000359245.3:p.Arg511His
ENST00000649773.1:c.1532G>A ENSP00000496882.1:p.Arg511His
ENST00000370225.3:c.1532G>A ENSP00000359245.3:p.Arg511His
NM_000350.2:c.1532G>A NP_000341.2:p.Arg511His
NM_000350.3:c.1532G>A MANE Select NP_000341.2:p.Arg511His
Search 100 bp 5'
Search 100 bp 3'