Canonical Allele Identifier: CA397297152

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802033A>T (hg19) ; chr17:g.4898738A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898738A>T , CM000679.2:g.4898738A>T	GRCh38
NC_000017.10:g.4802033A>T , CM000679.1:g.4802033A>T	GRCh37
NC_000017.9:g.4742812A>T	NCBI36
NG_008029.2:g.9338T>A
NG_028005.1:g.70399A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1480T>A MANE Select	ENSP00000497829.1:p.Ter494Lys
ENST00000649830.1:c.*116T>A	ENSP00000496907.1:n.*116T>A
ENST00000652550.1:n.1206T>A
ENST00000293780.4:c.1480T>A	ENSP00000293780.4:p.Ter494Lys
ENST00000572438.1:n.1166T>A
NM_000080.3:c.1480T>A	NP_000071.1:p.Ter494Lys
NM_000080.4:c.1480T>A MANE Select	NP_000071.1:p.Ter494Lys
XM_017024115.1:c.1444T>A	XP_016879604.1:p.Ter482Lys