Canonical Allele Identifier: CA226971
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99112
ClinVar RCV Id: RCV000085456 RCV000408449 RCV001074756 RCV000779008
dbSNP Id: rs62654397
gnomAD v2: 1-94577093-G-C
gnomAD v4: 1-94111537-G-C
MyVariant Identifiers: chr1:g.94577093G>C (hg19) chr1:g.94111537G>C (hg38)
PubMed: PMID:9973280 PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111537G>C , CM000663.2:g.94111537G>C GRCh38
NC_000001.10:g.94577093G>C , CM000663.1:g.94577093G>C GRCh37
NC_000001.9:g.94349681G>C NCBI36
NG_009073.1:g.14613C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.203C>G MANE Select ENSP00000359245.3:p.Pro68Arg
ENST00000649773.1:c.203C>G ENSP00000496882.1:p.Pro68Arg
ENST00000370225.3:c.203C>G ENSP00000359245.3:p.Pro68Arg
NM_000350.2:c.203C>G NP_000341.2:p.Pro68Arg
NM_000350.3:c.203C>G MANE Select NP_000341.2:p.Pro68Arg
Search 100 bp 5'
Search 100 bp 3'