Canonical Allele Identifier: CA397297325

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802068A>G (hg19) ; chr17:g.4898773A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898773A>G , CM000679.2:g.4898773A>G	GRCh38
NC_000017.10:g.4802068A>G , CM000679.1:g.4802068A>G	GRCh37
NC_000017.9:g.4742847A>G	NCBI36
NG_008029.2:g.9303T>C
NG_028005.1:g.70434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1445T>C MANE Select	ENSP00000497829.1:p.Val482Ala
ENST00000649830.1:c.*81T>C	ENSP00000496907.1:n.*81T>C
ENST00000652550.1:n.1171T>C
ENST00000293780.4:c.1445T>C	ENSP00000293780.4:p.Val482Ala
ENST00000572438.1:n.1131T>C
NM_000080.3:c.1445T>C	NP_000071.1:p.Val482Ala
NM_000080.4:c.1445T>C MANE Select	NP_000071.1:p.Val482Ala
XM_017024115.1:c.1409T>C	XP_016879604.1:p.Val470Ala