Canonical Allele Identifier: CA418816835
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM5558807 COSM5558808
MyVariant Identifiers: chr1:g.94476858A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011302A>C , CM000663.2:g.94011302A>C GRCh38
NC_000001.10:g.94476858A>C , CM000663.1:g.94476858A>C GRCh37
NC_000001.9:g.94249446A>C NCBI36
NG_009073.1:g.114848T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5544T>G MANE Select ENSP00000359245.3:p.Leu1848=
ENST00000370225.3:c.5544T>G ENSP00000359245.3:p.Leu1848=
ENST00000536513.5:c.1920T>G ENSP00000439707.2:p.Leu640=
NM_000350.2:c.5544T>G NP_000341.2:p.Leu1848=
NM_000350.3:c.5544T>G MANE Select NP_000341.2:p.Leu1848=
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