Canonical Allele Identifier: CA397300734
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802673G>T (hg19) chr17:g.4899378G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899378G>T , CM000679.2:g.4899378G>T GRCh38
NC_000017.10:g.4802673G>T , CM000679.1:g.4802673G>T GRCh37
NC_000017.9:g.4743452G>T NCBI36
NG_008029.2:g.8698C>A
NG_028005.1:g.71039G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649488.2:c.1039C>A MANE Select ENSP00000497829.1:p.Leu347Met
ENST00000649830.1:c.106C>A ENSP00000496907.1:p.Leu36Met
ENST00000652550.1:n.769C>A
ENST00000293780.4:c.1039C>A ENSP00000293780.4:p.Leu347Met
ENST00000572438.1:n.725C>A
NM_000080.3:c.1039C>A NP_000071.1:p.Leu347Met
NM_000080.4:c.1039C>A MANE Select NP_000071.1:p.Leu347Met
XM_017024115.1:c.1003C>A XP_016879604.1:p.Leu335Met
XR_001752421.1:n.1769C>A
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