Canonical Allele Identifier: CA497675798

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802067C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898772C>G , CM000679.2:g.4898772C>G	GRCh38
NC_000017.10:g.4802067C>G , CM000679.1:g.4802067C>G	GRCh37
NC_000017.9:g.4742846C>G	NCBI36
NG_008029.2:g.9304G>C
NG_028005.1:g.70433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1446G>C MANE Select	ENSP00000497829.1:p.Val482=
ENST00000649830.1:c.*82G>C	ENSP00000496907.1:n.*82G>C
ENST00000652550.1:n.1172G>C
ENST00000293780.4:c.1446G>C	ENSP00000293780.4:p.Val482=
ENST00000572438.1:n.1132G>C
NM_000080.3:c.1446G>C	NP_000071.1:p.Val482=
NM_000080.4:c.1446G>C MANE Select	NP_000071.1:p.Val482=
XM_017024115.1:c.1410G>C	XP_016879604.1:p.Val470=