Canonical Allele Identifier: CA2244610345
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898793G= , CM000679.2:g.4898793G= GRCh38
NC_000017.10:g.4802088G= , CM000679.1:g.4802088G= GRCh37
NC_000017.9:g.4742867G= NCBI36
NG_008029.2:g.9283C=
NG_028005.1:g.70454G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1425C= MANE Select ENSP00000497829.1:p.Leu475=
ENST00000649830.1:c.*61C= ENSP00000496907.1:n.*61C=
ENST00000652550.1:n.1151C=
ENST00000293780.4:c.1425C= ENSP00000293780.4:p.Leu475=
ENST00000572438.1:n.1111C=
NM_000080.3:c.1425C= NP_000071.1:p.Leu475=
NM_000080.4:c.1425C= MANE Select NP_000071.1:p.Leu475=
XM_017024115.1:c.1389C= XP_016879604.1:p.Leu463=