Canonical Allele Identifier: CA497675801

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802070T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898775T>A , CM000679.2:g.4898775T>A	GRCh38
NC_000017.10:g.4802070T>A , CM000679.1:g.4802070T>A	GRCh37
NC_000017.9:g.4742849T>A	NCBI36
NG_008029.2:g.9301A>T
NG_028005.1:g.70436T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1443A>T MANE Select	ENSP00000497829.1:p.Arg481=
ENST00000649830.1:c.*79A>T	ENSP00000496907.1:n.*79A>T
ENST00000652550.1:n.1169A>T
ENST00000293780.4:c.1443A>T	ENSP00000293780.4:p.Arg481=
ENST00000572438.1:n.1129A>T
NM_000080.3:c.1443A>T	NP_000071.1:p.Arg481=
NM_000080.4:c.1443A>T MANE Select	NP_000071.1:p.Arg481=
XM_017024115.1:c.1407A>T	XP_016879604.1:p.Arg469=