Canonical Allele Identifier: CA497675812
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1562100
ClinVar RCV Id: RCV002212345
dbSNP Id: rs763943642
gnomAD v4: 17-4898784-G-A
MyVariant Identifiers: chr17:g.4802079G>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1434C>T MANE Select ENSP00000497829.1:p.Tyr478=
ENST00000649830.1:c.*70C>T ENSP00000496907.1:n.*70C>T
ENST00000652550.1:n.1160C>T
ENST00000293780.4:c.1434C>T ENSP00000293780.4:p.Tyr478=
ENST00000572438.1:n.1120C>T
NM_000080.3:c.1434C>T NP_000071.1:p.Tyr478=
NM_000080.4:c.1434C>T MANE Select NP_000071.1:p.Tyr478=
XM_017024115.1:c.1398C>T XP_016879604.1:p.Tyr466=
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