Canonical Allele Identifier: CA2244610346
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898794A= , CM000679.2:g.4898794A= GRCh38
NC_000017.10:g.4802089A= , CM000679.1:g.4802089A= GRCh37
NC_000017.9:g.4742868A= NCBI36
NG_008029.2:g.9282T=
NG_028005.1:g.70455A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1424T= MANE Select ENSP00000497829.1:p.Leu475=
ENST00000649830.1:c.*60T= ENSP00000496907.1:n.*60T=
ENST00000652550.1:n.1150T=
ENST00000293780.4:c.1424T= ENSP00000293780.4:p.Leu475=
ENST00000572438.1:n.1110T=
NM_000080.3:c.1424T= NP_000071.1:p.Leu475=
NM_000080.4:c.1424T= MANE Select NP_000071.1:p.Leu475=
XM_017024115.1:c.1388T= XP_016879604.1:p.Leu463=