Canonical Allele Identifier: CA8313803

Gene: CHRNE

Linked Data

• dbSNP Id: rs368910775
• ExAC: 17:4802035 G / A
• gnomAD v4: 17-4898740-G-A
• MyVariant Identifiers: chr17:g.4802035G>A (hg19) ; chr17:g.4898740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898740G>A , CM000679.2:g.4898740G>A	GRCh38
NC_000017.10:g.4802035G>A , CM000679.1:g.4802035G>A	GRCh37
NC_000017.9:g.4742814G>A	NCBI36
NG_008029.2:g.9336C>T
NG_028005.1:g.70401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1478C>T MANE Select	ENSP00000497829.1:p.Pro493Leu
ENST00000649830.1:c.*114C>T	ENSP00000496907.1:n.*114C>T
ENST00000652550.1:n.1204C>T
ENST00000293780.4:c.1478C>T	ENSP00000293780.4:p.Pro493Leu
ENST00000572438.1:n.1164C>T
NM_000080.3:c.1478C>T	NP_000071.1:p.Pro493Leu
NM_000080.4:c.1478C>T MANE Select	NP_000071.1:p.Pro493Leu
XM_017024115.1:c.1442C>T	XP_016879604.1:p.Pro481Leu