Canonical Allele Identifier: CA8313805
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2715569
ClinVar RCV Id: RCV003526671
dbSNP Id: rs764033389
ExAC: 17:4802040 G / A
gnomAD v2: 17-4802040-G-A
gnomAD v3: 17-4898745-G-A
gnomAD v4: 17-4898745-G-A
MyVariant Identifiers: chr17:g.4802040G>A (hg19) chr17:g.4898745G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898745G>A , CM000679.2:g.4898745G>A GRCh38
NC_000017.10:g.4802040G>A , CM000679.1:g.4802040G>A GRCh37
NC_000017.9:g.4742819G>A NCBI36
NG_008029.2:g.9331C>T
NG_028005.1:g.70406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1473C>T MANE Select ENSP00000497829.1:p.Ile491=
ENST00000649830.1:c.*109C>T ENSP00000496907.1:n.*109C>T
ENST00000652550.1:n.1199C>T
ENST00000293780.4:c.1473C>T ENSP00000293780.4:p.Ile491=
ENST00000572438.1:n.1159C>T
NM_000080.3:c.1473C>T NP_000071.1:p.Ile491=
NM_000080.4:c.1473C>T MANE Select NP_000071.1:p.Ile491=
XM_017024115.1:c.1437C>T XP_016879604.1:p.Ile479=
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