Canonical Allele Identifier: CA2244610301
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1349712186
gnomAD v4: 17-4898728-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898728G>T , CM000679.2:g.4898728G>T GRCh38
NC_000017.10:g.4802023G>T , CM000679.1:g.4802023G>T GRCh37
NC_000017.9:g.4742802G>T NCBI36
NG_008029.2:g.9348C>A
NG_028005.1:g.70389G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*8C>A MANE Select ENSP00000497829.1:n.*8C>A
ENST00000649830.1:c.*126C>A ENSP00000496907.1:n.*126C>A
ENST00000652550.1:n.1216C>A
ENST00000293780.4:c.*8C>A ENSP00000293780.4:n.*8C>A
ENST00000572438.1:n.1176C>A
NM_000080.3:c.*8C>A NP_000071.1:n.*8C>A
NM_000080.4:c.*8C>A MANE Select NP_000071.1:n.*8C>A
XM_017024115.1:c.*8C>A XP_016879604.1:n.*8C>A
Search 100 bp 5'
Search 100 bp 3'