Canonical Allele Identifier: CA341278200
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001893-T-C
MyVariant Identifiers: chr1:g.94467449T>C (hg19) chr1:g.94001893T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001893T>C , CM000663.2:g.94001893T>C GRCh38
NC_000001.10:g.94467449T>C , CM000663.1:g.94467449T>C GRCh37
NC_000001.9:g.94240037T>C NCBI36
NG_009073.1:g.124257A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6247A>G MANE Select ENSP00000359245.3:p.Ile2083Val
ENST00000370225.3:c.6247A>G ENSP00000359245.3:p.Ile2083Val
ENST00000465352.1:n.663A>G
ENST00000536513.5:c.2623A>G ENSP00000439707.2:p.Ile875Val
NM_000350.2:c.6247A>G NP_000341.2:p.Ile2083Val
NM_000350.3:c.6247A>G MANE Select NP_000341.2:p.Ile2083Val
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