Canonical Allele Identifier: CA227379
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99437
ClinVar RCV Id: RCV000085796 RCV001074057
dbSNP Id: rs61750645
gnomAD v2: 1-94467467-G-C
gnomAD v3: 1-94001911-G-C
gnomAD v4: 1-94001911-G-C
MyVariant Identifiers: chr1:g.94467467G>C (hg19) chr1:g.94001911G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001911G>C , CM000663.2:g.94001911G>C GRCh38
NC_000001.10:g.94467467G>C , CM000663.1:g.94467467G>C GRCh37
NC_000001.9:g.94240055G>C NCBI36
NG_009073.1:g.124239C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6229C>G MANE Select ENSP00000359245.3:p.Arg2077Gly
ENST00000370225.3:c.6229C>G ENSP00000359245.3:p.Arg2077Gly
ENST00000465352.1:n.645C>G
ENST00000536513.5:c.2605C>G ENSP00000439707.2:p.Arg869Gly
NM_000350.2:c.6229C>G NP_000341.2:p.Arg2077Gly
NM_000350.3:c.6229C>G MANE Select NP_000341.2:p.Arg2077Gly
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