Canonical Allele Identifier: CA2244610317
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898750A= , CM000679.2:g.4898750A= GRCh38
NC_000017.10:g.4802045A= , CM000679.1:g.4802045A= GRCh37
NC_000017.9:g.4742824A= NCBI36
NG_008029.2:g.9326T=
NG_028005.1:g.70411A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1468T= MANE Select ENSP00000497829.1:p.Cys490=
ENST00000649830.1:c.*104T= ENSP00000496907.1:n.*104T=
ENST00000652550.1:n.1194T=
ENST00000293780.4:c.1468T= ENSP00000293780.4:p.Cys490=
ENST00000572438.1:n.1154T=
NM_000080.3:c.1468T= NP_000071.1:p.Cys490=
NM_000080.4:c.1468T= MANE Select NP_000071.1:p.Cys490=
XM_017024115.1:c.1432T= XP_016879604.1:p.Cys478=