Canonical Allele Identifier: CA497675841

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 2880075
• ClinVar RCV Id: RCV003640770
• MyVariant Identifiers: chr17:g.4802094G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898799G>A , CM000679.2:g.4898799G>A	GRCh38
NC_000017.10:g.4802094G>A , CM000679.1:g.4802094G>A	GRCh37
NC_000017.9:g.4742873G>A	NCBI36
NG_008029.2:g.9277C>T
NG_028005.1:g.70460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1419C>T MANE Select	ENSP00000497829.1:p.Ile473=
ENST00000649830.1:c.*55C>T	ENSP00000496907.1:n.*55C>T
ENST00000652550.1:n.1145C>T
ENST00000293780.4:c.1419C>T	ENSP00000293780.4:p.Ile473=
ENST00000572438.1:n.1105C>T
NM_000080.3:c.1419C>T	NP_000071.1:p.Ile473=
NM_000080.4:c.1419C>T MANE Select	NP_000071.1:p.Ile473=
XM_017024115.1:c.1383C>T	XP_016879604.1:p.Ile461=