Canonical Allele Identifier: CA497675800
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1569646
ClinVar RCV Id: RCV002220835
dbSNP Id: rs2151093399
gnomAD v4: 17-4898775-T-G
MyVariant Identifiers: chr17:g.4802070T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898775T>G , CM000679.2:g.4898775T>G GRCh38
NC_000017.10:g.4802070T>G , CM000679.1:g.4802070T>G GRCh37
NC_000017.9:g.4742849T>G NCBI36
NG_008029.2:g.9301A>C
NG_028005.1:g.70436T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1443A>C MANE Select ENSP00000497829.1:p.Arg481=
ENST00000649830.1:c.*79A>C ENSP00000496907.1:n.*79A>C
ENST00000652550.1:n.1169A>C
ENST00000293780.4:c.1443A>C ENSP00000293780.4:p.Arg481=
ENST00000572438.1:n.1129A>C
NM_000080.3:c.1443A>C NP_000071.1:p.Arg481=
NM_000080.4:c.1443A>C MANE Select NP_000071.1:p.Arg481=
XM_017024115.1:c.1407A>C XP_016879604.1:p.Arg469=
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Search 100 bp 3'