Canonical Allele Identifier: CA287178757
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 631776
ClinVar RCV Id: RCV000778502
dbSNP Id: rs972956416
gnomAD v4: 17-4898738-A-G
MyVariant Identifiers: chr17:g.4802033A>G (hg19) chr17:g.4898738A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898738A>G , CM000679.2:g.4898738A>G GRCh38
NC_000017.10:g.4802033A>G , CM000679.1:g.4802033A>G GRCh37
NC_000017.9:g.4742812A>G NCBI36
NG_008029.2:g.9338T>C
NG_028005.1:g.70399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1480T>C MANE Select ENSP00000497829.1:p.Ter494Gln
ENST00000649830.1:c.*116T>C ENSP00000496907.1:n.*116T>C
ENST00000652550.1:n.1206T>C
ENST00000293780.4:c.1480T>C ENSP00000293780.4:p.Ter494Gln
ENST00000572438.1:n.1166T>C
NM_000080.3:c.1480T>C NP_000071.1:p.Ter494Gln
NM_000080.4:c.1480T>C MANE Select NP_000071.1:p.Ter494Gln
XM_017024115.1:c.1444T>C XP_016879604.1:p.Ter482Gln
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