Canonical Allele Identifier: CA8313826
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 733464
ClinVar RCV Id: RCV000908760
dbSNP Id: rs750097789
ExAC: 17:4802094 G / T
gnomAD v2: 17-4802094-G-T
gnomAD v3: 17-4898799-G-T
gnomAD v4: 17-4898799-G-T
MyVariant Identifiers: chr17:g.4802094G>T (hg19) chr17:g.4898799G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898799G>T , CM000679.2:g.4898799G>T GRCh38
NC_000017.10:g.4802094G>T , CM000679.1:g.4802094G>T GRCh37
NC_000017.9:g.4742873G>T NCBI36
NG_008029.2:g.9277C>A
NG_028005.1:g.70460G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1419C>A MANE Select ENSP00000497829.1:p.Ile473=
ENST00000649830.1:c.*55C>A ENSP00000496907.1:n.*55C>A
ENST00000652550.1:n.1145C>A
ENST00000293780.4:c.1419C>A ENSP00000293780.4:p.Ile473=
ENST00000572438.1:n.1105C>A
NM_000080.3:c.1419C>A NP_000071.1:p.Ile473=
NM_000080.4:c.1419C>A MANE Select NP_000071.1:p.Ile473=
XM_017024115.1:c.1383C>A XP_016879604.1:p.Ile461=
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