Canonical Allele Identifier: CA397297356
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1416009
ClinVar RCV Id: RCV001921135
dbSNP Id: rs760738362
gnomAD v2: 17-4802074-T-C
gnomAD v4: 17-4898779-T-C
MyVariant Identifiers: chr17:g.4802074T>C (hg19) chr17:g.4898779T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1439A>G MANE Select ENSP00000497829.1:p.Asn480Ser
ENST00000649830.1:c.*75A>G ENSP00000496907.1:n.*75A>G
ENST00000652550.1:n.1165A>G
ENST00000293780.4:c.1439A>G ENSP00000293780.4:p.Asn480Ser
ENST00000572438.1:n.1125A>G
NM_000080.3:c.1439A>G NP_000071.1:p.Asn480Ser
NM_000080.4:c.1439A>G MANE Select NP_000071.1:p.Asn480Ser
XM_017024115.1:c.1403A>G XP_016879604.1:p.Asn468Ser
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