Canonical Allele Identifier: CA2244610199
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1969808243
gnomAD v4: 17-4898604-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898604C>A , CM000679.2:g.4898604C>A GRCh38
NC_000017.10:g.4801899C>A , CM000679.1:g.4801899C>A GRCh37
NC_000017.9:g.4742678C>A NCBI36
NG_008029.2:g.9472G>T
NG_028005.1:g.70265C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*132G>T MANE Select ENSP00000497829.1:n.*132G>T
ENST00000649830.1:c.*250G>T ENSP00000496907.1:n.*250G>T
ENST00000652550.1:n.1340G>T
ENST00000293780.4:c.*132G>T ENSP00000293780.4:n.*132G>T
ENST00000572438.1:n.1300G>T
NM_000080.3:c.*132G>T NP_000071.1:n.*132G>T
NM_000080.4:c.*132G>T MANE Select NP_000071.1:n.*132G>T
XM_017024115.1:c.*132G>T XP_016879604.1:n.*132G>T
Search 100 bp 5'
Search 100 bp 3'