Canonical Allele Identifier: CA341283644
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715640
ClinVar RCV Id: RCV002301389
dbSNP Id: rs1659901882
gnomAD v3: 1-94021682-T-C
gnomAD v4: 1-94021682-T-C
MyVariant Identifiers: chr1:g.94487238T>C (hg19) chr1:g.94021682T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021682T>C , CM000663.2:g.94021682T>C GRCh38
NC_000001.10:g.94487238T>C , CM000663.1:g.94487238T>C GRCh37
NC_000001.9:g.94259826T>C NCBI36
NG_009073.1:g.104468A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4806A>G MANE Select ENSP00000359245.3:p.Ile1602Met
ENST00000370225.3:c.4806A>G ENSP00000359245.3:p.Ile1602Met
ENST00000460514.1:n.300A>G
ENST00000536513.5:c.1182A>G ENSP00000439707.2:p.Ile394Met
NM_000350.2:c.4806A>G NP_000341.2:p.Ile1602Met
NM_000350.3:c.4806A>G MANE Select NP_000341.2:p.Ile1602Met
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