Canonical Allele Identifier: CA397297373
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802077A>C (hg19) chr17:g.4898782A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898782A>C , CM000679.2:g.4898782A>C GRCh38
NC_000017.10:g.4802077A>C , CM000679.1:g.4802077A>C GRCh37
NC_000017.9:g.4742856A>C NCBI36
NG_008029.2:g.9294T>G
NG_028005.1:g.70443A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1436T>G MANE Select ENSP00000497829.1:p.Phe479Cys
ENST00000649830.1:c.*72T>G ENSP00000496907.1:n.*72T>G
ENST00000652550.1:n.1162T>G
ENST00000293780.4:c.1436T>G ENSP00000293780.4:p.Phe479Cys
ENST00000572438.1:n.1122T>G
NM_000080.3:c.1436T>G NP_000071.1:p.Phe479Cys
NM_000080.4:c.1436T>G MANE Select NP_000071.1:p.Phe479Cys
XM_017024115.1:c.1400T>G XP_016879604.1:p.Phe467Cys
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