Canonical Allele Identifier: CA8314073
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Linked Data

ClinVar Variation Id: 1097055
ClinVar RCV Id: RCV001418517
dbSNP Id: rs778130828
ExAC: 17:4802771 G / A
gnomAD v2: 17-4802771-G-A
gnomAD v3: 17-4899476-G-A
gnomAD v4: 17-4899476-G-A
MyVariant Identifiers: chr17:g.4802771G>A (hg19) chr17:g.4899476G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899476G>A , CM000679.2:g.4899476G>A GRCh38
NC_000017.10:g.4802771G>A , CM000679.1:g.4802771G>A GRCh37
NC_000017.9:g.4743550G>A NCBI36
NG_008029.2:g.8600C>T
NG_028005.1:g.71137G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1024C>T (CHRNE) MANE Select ENSP00000497829.1:p.Leu342=
ENST00000649830.1:c.91C>T (CHRNE) ENSP00000496907.1:p.Leu31=
ENST00000652550.1:n.754C>T (CHRNE)
ENST00000293780.4:c.1024C>T (CHRNE) ENSP00000293780.4:p.Leu342=
ENST00000521575.1:c.-287G>A (C17orf107) ENSP00000429241.1:n.-287G>A
ENST00000572438.1:n.710C>T (CHRNE)
NM_000080.3:c.1024C>T (CHRNE) NP_000071.1:p.Leu342=
XM_011523612.1:c.-287G>A (C17orf107) XP_011521914.1:n.-287G>A
NM_000080.4:c.1024C>T (CHRNE) MANE Select NP_000071.1:p.Leu342=
XM_017024115.1:c.988C>T (CHRNE) XP_016879604.1:p.Leu330=
XR_001752421.1:n.1754C>T (CHRNE)
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