Canonical Allele Identifier: CA497675799
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802070T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898775T>C , CM000679.2:g.4898775T>C GRCh38
NC_000017.10:g.4802070T>C , CM000679.1:g.4802070T>C GRCh37
NC_000017.9:g.4742849T>C NCBI36
NG_008029.2:g.9301A>G
NG_028005.1:g.70436T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1443A>G MANE Select ENSP00000497829.1:p.Arg481=
ENST00000649830.1:c.*79A>G ENSP00000496907.1:n.*79A>G
ENST00000652550.1:n.1169A>G
ENST00000293780.4:c.1443A>G ENSP00000293780.4:p.Arg481=
ENST00000572438.1:n.1129A>G
NM_000080.3:c.1443A>G NP_000071.1:p.Arg481=
NM_000080.4:c.1443A>G MANE Select NP_000071.1:p.Arg481=
XM_017024115.1:c.1407A>G XP_016879604.1:p.Arg469=
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