Canonical Allele Identifier: CA397297144
Gene: CHRNE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898737T>A , CM000679.2:g.4898737T>A GRCh38
NC_000017.10:g.4802032T>A , CM000679.1:g.4802032T>A GRCh37
NC_000017.9:g.4742811T>A NCBI36
NG_008029.2:g.9339A>T
NG_028005.1:g.70398T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1481A>T MANE Select ENSP00000497829.1:p.Ter494Leu
ENST00000649830.1:c.*117A>T ENSP00000496907.1:n.*117A>T
ENST00000652550.1:n.1207A>T
ENST00000293780.4:c.1481A>T ENSP00000293780.4:p.Ter494Leu
ENST00000572438.1:n.1167A>T
NM_000080.3:c.1481A>T NP_000071.1:p.Ter494Leu
NM_000080.4:c.1481A>T MANE Select NP_000071.1:p.Ter494Leu
XM_017024115.1:c.1445A>T XP_016879604.1:p.Ter482Leu