Canonical Allele Identifier: CA8313821
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 3144678
ClinVar RCV Id: RCV004441535
dbSNP Id: rs760738362
ExAC: 17:4802074 T / G
gnomAD v2: 17-4802074-T-G
gnomAD v3: 17-4898779-T-G
gnomAD v4: 17-4898779-T-G
MyVariant Identifiers: chr17:g.4802074T>G (hg19) chr17:g.4898779T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898779T>G , CM000679.2:g.4898779T>G GRCh38
NC_000017.10:g.4802074T>G , CM000679.1:g.4802074T>G GRCh37
NC_000017.9:g.4742853T>G NCBI36
NG_008029.2:g.9297A>C
NG_028005.1:g.70440T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1439A>C MANE Select ENSP00000497829.1:p.Asn480Thr
ENST00000649830.1:c.*75A>C ENSP00000496907.1:n.*75A>C
ENST00000652550.1:n.1165A>C
ENST00000293780.4:c.1439A>C ENSP00000293780.4:p.Asn480Thr
ENST00000572438.1:n.1125A>C
NM_000080.3:c.1439A>C NP_000071.1:p.Asn480Thr
NM_000080.4:c.1439A>C MANE Select NP_000071.1:p.Asn480Thr
XM_017024115.1:c.1403A>C XP_016879604.1:p.Asn468Thr
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