Canonical Allele Identifier: CA8313783
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs751419232
ExAC: 17:4801984 A / C
gnomAD v2: 17-4801984-A-C
gnomAD v4: 17-4898689-A-C
MyVariant Identifiers: chr17:g.4801984A>C (hg19) chr17:g.4898689A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898689A>C , CM000679.2:g.4898689A>C GRCh38
NC_000017.10:g.4801984A>C , CM000679.1:g.4801984A>C GRCh37
NC_000017.9:g.4742763A>C NCBI36
NG_008029.2:g.9387T>G
NG_028005.1:g.70350A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*47T>G MANE Select ENSP00000497829.1:n.*47T>G
ENST00000649830.1:c.*165T>G ENSP00000496907.1:n.*165T>G
ENST00000652550.1:n.1255T>G
ENST00000293780.4:c.*47T>G ENSP00000293780.4:n.*47T>G
ENST00000572438.1:n.1215T>G
NM_000080.3:c.*47T>G NP_000071.1:n.*47T>G
NM_000080.4:c.*47T>G MANE Select NP_000071.1:n.*47T>G
XM_017024115.1:c.*47T>G XP_016879604.1:n.*47T>G
Search 100 bp 5'
Search 100 bp 3'