Canonical Allele Identifier: CA8313807
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs757004425
ExAC: 17:4802045 A / G
gnomAD v2: 17-4802045-A-G
gnomAD v3: 17-4898750-A-G
gnomAD v4: 17-4898750-A-G
MyVariant Identifiers: chr17:g.4802045A>G (hg19) chr17:g.4898750A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898750A>G , CM000679.2:g.4898750A>G GRCh38
NC_000017.10:g.4802045A>G , CM000679.1:g.4802045A>G GRCh37
NC_000017.9:g.4742824A>G NCBI36
NG_008029.2:g.9326T>C
NG_028005.1:g.70411A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1468T>C MANE Select ENSP00000497829.1:p.Cys490Arg
ENST00000649830.1:c.*104T>C ENSP00000496907.1:n.*104T>C
ENST00000652550.1:n.1194T>C
ENST00000293780.4:c.1468T>C ENSP00000293780.4:p.Cys490Arg
ENST00000572438.1:n.1154T>C
NM_000080.3:c.1468T>C NP_000071.1:p.Cys490Arg
NM_000080.4:c.1468T>C MANE Select NP_000071.1:p.Cys490Arg
XM_017024115.1:c.1432T>C XP_016879604.1:p.Cys478Arg
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