Canonical Allele Identifier: CA8313816
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 1939946
ClinVar RCV Id: RCV002658161
dbSNP Id: rs374577354
ExAC: 17:4802063 C / G
gnomAD v2: 17-4802063-C-G
gnomAD v3: 17-4898768-C-G
gnomAD v4: 17-4898768-C-G
MyVariant Identifiers: chr17:g.4802063C>G (hg19) chr17:g.4898768C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898768C>G , CM000679.2:g.4898768C>G GRCh38
NC_000017.10:g.4802063C>G , CM000679.1:g.4802063C>G GRCh37
NC_000017.9:g.4742842C>G NCBI36
NG_008029.2:g.9308G>C
NG_028005.1:g.70429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1450G>C MANE Select ENSP00000497829.1:p.Asp484His
ENST00000649830.1:c.*86G>C ENSP00000496907.1:n.*86G>C
ENST00000652550.1:n.1176G>C
ENST00000293780.4:c.1450G>C ENSP00000293780.4:p.Asp484His
ENST00000572438.1:n.1136G>C
NM_000080.3:c.1450G>C NP_000071.1:p.Asp484His
NM_000080.4:c.1450G>C MANE Select NP_000071.1:p.Asp484His
XM_017024115.1:c.1414G>C XP_016879604.1:p.Asp472His
Search 100 bp 5'
Search 100 bp 3'