Canonical Allele Identifier: CA497675847
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802097G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898802G>C , CM000679.2:g.4898802G>C GRCh38
NC_000017.10:g.4802097G>C , CM000679.1:g.4802097G>C GRCh37
NC_000017.9:g.4742876G>C NCBI36
NG_008029.2:g.9274C>G
NG_028005.1:g.70463G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1416C>G MANE Select ENSP00000497829.1:p.Leu472=
ENST00000649830.1:c.*52C>G ENSP00000496907.1:n.*52C>G
ENST00000652550.1:n.1142C>G
ENST00000293780.4:c.1416C>G ENSP00000293780.4:p.Leu472=
ENST00000572438.1:n.1102C>G
NM_000080.3:c.1416C>G NP_000071.1:p.Leu472=
NM_000080.4:c.1416C>G MANE Select NP_000071.1:p.Leu472=
XM_017024115.1:c.1380C>G XP_016879604.1:p.Leu460=
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