Canonical Allele Identifier: CA8313823
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs753697359
ExAC: 17:4802084 C / T
gnomAD v2: 17-4802084-C-T
gnomAD v4: 17-4898789-C-T
MyVariant Identifiers: chr17:g.4802084C>T (hg19) chr17:g.4898789C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898789C>T , CM000679.2:g.4898789C>T GRCh38
NC_000017.10:g.4802084C>T , CM000679.1:g.4802084C>T GRCh37
NC_000017.9:g.4742863C>T NCBI36
NG_008029.2:g.9287G>A
NG_028005.1:g.70450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1429G>A MANE Select ENSP00000497829.1:p.Ala477Thr
ENST00000649830.1:c.*65G>A ENSP00000496907.1:n.*65G>A
ENST00000652550.1:n.1155G>A
ENST00000293780.4:c.1429G>A ENSP00000293780.4:p.Ala477Thr
ENST00000572438.1:n.1115G>A
NM_000080.3:c.1429G>A NP_000071.1:p.Ala477Thr
NM_000080.4:c.1429G>A MANE Select NP_000071.1:p.Ala477Thr
XM_017024115.1:c.1393G>A XP_016879604.1:p.Ala465Thr
Search 100 bp 5'
Search 100 bp 3'