Canonical Allele Identifier: CA8314044
Gene: CHRNE HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.4899385C>G
GRCh37 chr17:g.4802680C>G
gnomAD v2:
17:4802680 C / G
gnomAD v3:
17:4899385 C / G
gnomAD v4:
chr17-4899385-C-G
Joint Max Group AF 0.00001778 (NFE)
Exomes Max Group AF 0.00001804 (NFE)
ClinVar RCV:
RCV000483785
RCV001217965
ClinVar Variation:
420092
dbSNP:
755303686
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899385C>G , CM000679.2:g.4899385C>G GRCh38
NC_000017.10:g.4802680C>G , CM000679.1:g.4802680C>G GRCh37
NC_000017.9:g.4743459C>G NCBI36
NG_008029.2:g.8691G>C
NG_028005.1:g.71046C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1033-1G>C MANE Select ENSP00000497829.1:n.1033-1G>C
ENST00000649830.1:c.100-1G>C ENSP00000496907.1:n.100-1G>C
ENST00000652550.1:n.763-1G>C
ENST00000293780.4:c.1033-1G>C ENSP00000293780.4:n.1033-1G>C
ENST00000572438.1:n.719-1G>C
NM_000080.3:c.1033-1G>C NP_000071.1:n.1033-1G>C
NM_000080.4:c.1033-1G>C MANE Select NP_000071.1:n.1033-1G>C
XM_017024115.1:c.997-1G>C XP_016879604.1:n.997-1G>C
XR_001752421.1:n.1763-1G>C
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