Canonical Allele Identifier: CA397297269
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802059A>C (hg19) chr17:g.4898764A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898764A>C , CM000679.2:g.4898764A>C GRCh38
NC_000017.10:g.4802059A>C , CM000679.1:g.4802059A>C GRCh37
NC_000017.9:g.4742838A>C NCBI36
NG_008029.2:g.9312T>G
NG_028005.1:g.70425A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1454T>G MANE Select ENSP00000497829.1:p.Leu485Arg
ENST00000649830.1:c.*90T>G ENSP00000496907.1:n.*90T>G
ENST00000652550.1:n.1180T>G
ENST00000293780.4:c.1454T>G ENSP00000293780.4:p.Leu485Arg
ENST00000572438.1:n.1140T>G
NM_000080.3:c.1454T>G NP_000071.1:p.Leu485Arg
NM_000080.4:c.1454T>G MANE Select NP_000071.1:p.Leu485Arg
XM_017024115.1:c.1418T>G XP_016879604.1:p.Leu473Arg
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