Canonical Allele Identifier: CA2244610347

Gene: CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898795G= , CM000679.2:g.4898795G=	GRCh38
NC_000017.10:g.4802090G= , CM000679.1:g.4802090G=	GRCh37
NC_000017.9:g.4742869G=	NCBI36
NG_008029.2:g.9281C=
NG_028005.1:g.70456G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1423C= MANE Select	ENSP00000497829.1:p.Leu475=
ENST00000649830.1:c.*59C=	ENSP00000496907.1:n.*59C=
ENST00000652550.1:n.1149C=
ENST00000293780.4:c.1423C=	ENSP00000293780.4:p.Leu475=
ENST00000572438.1:n.1109C=
NM_000080.3:c.1423C=	NP_000071.1:p.Leu475=
NM_000080.4:c.1423C= MANE Select	NP_000071.1:p.Leu475=
XM_017024115.1:c.1387C=	XP_016879604.1:p.Leu463=