Canonical Allele Identifier: CA8313822
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 620130
ClinVar RCV Id: RCV000760410 RCV002533835
dbSNP Id: rs763943642
ExAC: 17:4802079 G / T
gnomAD v2: 17-4802079-G-T
gnomAD v3: 17-4898784-G-T
gnomAD v4: 17-4898784-G-T
MyVariant Identifiers: chr17:g.4802079G>T (hg19) chr17:g.4898784G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898784G>T , CM000679.2:g.4898784G>T GRCh38
NC_000017.10:g.4802079G>T , CM000679.1:g.4802079G>T GRCh37
NC_000017.9:g.4742858G>T NCBI36
NG_008029.2:g.9292C>A
NG_028005.1:g.70445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1434C>A MANE Select ENSP00000497829.1:p.Tyr478Ter
ENST00000649830.1:c.*70C>A ENSP00000496907.1:n.*70C>A
ENST00000652550.1:n.1160C>A
ENST00000293780.4:c.1434C>A ENSP00000293780.4:p.Tyr478Ter
ENST00000572438.1:n.1120C>A
NM_000080.3:c.1434C>A NP_000071.1:p.Tyr478Ter
NM_000080.4:c.1434C>A MANE Select NP_000071.1:p.Tyr478Ter
XM_017024115.1:c.1398C>A XP_016879604.1:p.Tyr466Ter
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