Canonical Allele Identifier: CA2244610330

Gene: CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898765G= , CM000679.2:g.4898765G=	GRCh38
NC_000017.10:g.4802060G= , CM000679.1:g.4802060G=	GRCh37
NC_000017.9:g.4742839G=	NCBI36
NG_008029.2:g.9311C=
NG_028005.1:g.70426G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1453C= MANE Select	ENSP00000497829.1:p.Leu485=
ENST00000649830.1:c.*89C=	ENSP00000496907.1:n.*89C=
ENST00000652550.1:n.1179C=
ENST00000293780.4:c.1453C=	ENSP00000293780.4:p.Leu485=
ENST00000572438.1:n.1139C=
NM_000080.3:c.1453C=	NP_000071.1:p.Leu485=
NM_000080.4:c.1453C= MANE Select	NP_000071.1:p.Leu485=
XM_017024115.1:c.1417C=	XP_016879604.1:p.Leu473=