Canonical Allele Identifier: CA227203
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99291
ClinVar RCV Id: RCV000085644 RCV003323395
dbSNP Id: rs61750150
gnomAD v2: 1-94495005-G-C
gnomAD v3: 1-94029449-G-C
gnomAD v4: 1-94029449-G-C
MyVariant Identifiers: chr1:g.94495005G>C (hg19) chr1:g.94029449G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029449G>C , CM000663.2:g.94029449G>C GRCh38
NC_000001.10:g.94495005G>C , CM000663.1:g.94495005G>C GRCh37
NC_000001.9:g.94267593G>C NCBI36
NG_009073.1:g.96701C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4535C>G MANE Select ENSP00000359245.3:p.Pro1512Arg
ENST00000370225.3:c.4535C>G ENSP00000359245.3:p.Pro1512Arg
ENST00000536513.5:c.911C>G ENSP00000439707.2:p.Pro304Arg
NM_000350.2:c.4535C>G NP_000341.2:p.Pro1512Arg
NM_000350.3:c.4535C>G MANE Select NP_000341.2:p.Pro1512Arg
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Search 100 bp 3'