Canonical Allele Identifier: CA2733116130
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs2151092904

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898484G>A , CM000679.2:g.4898484G>A GRCh38
NC_000017.10:g.4801779G>A , CM000679.1:g.4801779G>A GRCh37
NC_000017.9:g.4742558G>A NCBI36
NG_008029.2:g.9592C>T
NG_028005.1:g.70145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*252C>T MANE Select ENSP00000497829.1:n.*252C>T
ENST00000649830.1:c.*370C>T ENSP00000496907.1:n.*370C>T
ENST00000652550.1:n.1460C>T
ENST00000293780.4:c.*252C>T ENSP00000293780.4:n.*252C>T
ENST00000572438.1:n.1420C>T
NM_000080.3:c.*252C>T NP_000071.1:n.*252C>T
NM_000080.4:c.*252C>T MANE Select NP_000071.1:n.*252C>T
XM_017024115.1:c.*252C>T XP_016879604.1:n.*252C>T