Canonical Allele Identifier: CA397297234

Gene: CHRNE

Linked Data

• ClinVar Variation Id: 1709193
• ClinVar RCV Id: RCV002289008
• MyVariant Identifiers: chr17:g.4802052G>T (hg19) ; chr17:g.4898757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898757G>T , CM000679.2:g.4898757G>T	GRCh38
NC_000017.10:g.4802052G>T , CM000679.1:g.4802052G>T	GRCh37
NC_000017.9:g.4742831G>T	NCBI36
NG_008029.2:g.9319C>A
NG_028005.1:g.70418G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1461C>A MANE Select	ENSP00000497829.1:p.Tyr487Ter
ENST00000649830.1:c.*97C>A	ENSP00000496907.1:n.*97C>A
ENST00000652550.1:n.1187C>A
ENST00000293780.4:c.1461C>A	ENSP00000293780.4:p.Tyr487Ter
ENST00000572438.1:n.1147C>A
NM_000080.3:c.1461C>A	NP_000071.1:p.Tyr487Ter
NM_000080.4:c.1461C>A MANE Select	NP_000071.1:p.Tyr487Ter
XM_017024115.1:c.1425C>A	XP_016879604.1:p.Tyr475Ter