Canonical Allele Identifier: CA341275668
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94461667G>C (hg19) chr1:g.93996111G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996111G>C , CM000663.2:g.93996111G>C GRCh38
NC_000001.10:g.94461667G>C , CM000663.1:g.94461667G>C GRCh37
NC_000001.9:g.94234255G>C NCBI36
NG_009073.1:g.130039C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6814C>G MANE Select ENSP00000359245.3:p.Gln2272Glu
ENST00000370225.3:c.6814C>G ENSP00000359245.3:p.Gln2272Glu
ENST00000536513.5:c.3190C>G ENSP00000439707.2:p.Gln1064Glu
NM_000350.2:c.6814C>G NP_000341.2:p.Gln2272Glu
NM_000350.3:c.6814C>G MANE Select NP_000341.2:p.Gln2272Glu
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