Canonical Allele Identifier: CA287177851
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs917834543
gnomAD v2: 17-4801365-G-A
gnomAD v3: 17-4898070-G-A
gnomAD v4: 17-4898070-G-A
MyVariant Identifiers: chr17:g.4801365G>A (hg19) chr17:g.4898070G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898070G>A , CM000679.2:g.4898070G>A GRCh38
NC_000017.10:g.4801365G>A , CM000679.1:g.4801365G>A GRCh37
NC_000017.9:g.4742144G>A NCBI36
NG_008029.2:g.10006C>T
NG_028005.1:g.69731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*666C>T MANE Select ENSP00000497829.1:n.*666C>T
ENST00000652550.1:n.1874C>T
ENST00000293780.4:c.*666C>T ENSP00000293780.4:n.*666C>T
ENST00000572438.1:n.1834C>T
NM_000080.3:c.*666C>T NP_000071.1:n.*666C>T
NM_000080.4:c.*666C>T MANE Select NP_000071.1:n.*666C>T
XM_017024115.1:c.*666C>T XP_016879604.1:n.*666C>T
Search 100 bp 5'
Search 100 bp 3'