Canonical Allele Identifier: CA341287088
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94031861-G-C
COSMIC: COSM158784
MyVariant Identifiers: chr1:g.94497417G>C (hg19) chr1:g.94031861G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031861G>C , CM000663.2:g.94031861G>C GRCh38
NC_000001.10:g.94497417G>C , CM000663.1:g.94497417G>C GRCh37
NC_000001.9:g.94270005G>C NCBI36
NG_009073.1:g.94289C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4045C>G MANE Select ENSP00000359245.3:p.Gln1349Glu
ENST00000370225.3:c.4045C>G ENSP00000359245.3:p.Gln1349Glu
ENST00000536513.5:c.421C>G ENSP00000439707.2:p.Gln141Glu
NM_000350.2:c.4045C>G NP_000341.2:p.Gln1349Glu
NM_000350.3:c.4045C>G MANE Select NP_000341.2:p.Gln1349Glu
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