Canonical Allele Identifier: CA2244610312
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898743T= , CM000679.2:g.4898743T= GRCh38
NC_000017.10:g.4802038T= , CM000679.1:g.4802038T= GRCh37
NC_000017.9:g.4742817T= NCBI36
NG_008029.2:g.9333A=
NG_028005.1:g.70404T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1475A= MANE Select ENSP00000497829.1:p.Gln492=
ENST00000649830.1:c.*111A= ENSP00000496907.1:n.*111A=
ENST00000652550.1:n.1201A=
ENST00000293780.4:c.1475A= ENSP00000293780.4:p.Gln492=
ENST00000572438.1:n.1161A=
NM_000080.3:c.1475A= NP_000071.1:p.Gln492=
NM_000080.4:c.1475A= MANE Select NP_000071.1:p.Gln492=
XM_017024115.1:c.1439A= XP_016879604.1:p.Gln480=