Canonical Allele Identifier: CA497675734

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802043A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898748A>G , CM000679.2:g.4898748A>G	GRCh38
NC_000017.10:g.4802043A>G , CM000679.1:g.4802043A>G	GRCh37
NC_000017.9:g.4742822A>G	NCBI36
NG_008029.2:g.9328T>C
NG_028005.1:g.70409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1470T>C MANE Select	ENSP00000497829.1:p.Cys490=
ENST00000649830.1:c.*106T>C	ENSP00000496907.1:n.*106T>C
ENST00000652550.1:n.1196T>C
ENST00000293780.4:c.1470T>C	ENSP00000293780.4:p.Cys490=
ENST00000572438.1:n.1156T>C
NM_000080.3:c.1470T>C	NP_000071.1:p.Cys490=
NM_000080.4:c.1470T>C MANE Select	NP_000071.1:p.Cys490=
XM_017024115.1:c.1434T>C	XP_016879604.1:p.Cys478=