Canonical Allele Identifier: CA269930

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174753544G>A , CM000664.2:g.174753544G>A	GRCh38
NC_000002.11:g.175618272G>A , CM000664.1:g.175618272G>A	GRCh37
NC_000002.10:g.175326518G>A	NCBI36
NG_008172.1:g.15929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.248C>T	ENSP00000490338.2:p.Ser83Phe
ENST00000672640.1:c.248C>T	ENSP00000500507.1:p.Ser83Phe
ENST00000261007.9:c.812C>T	ENSP00000261007.5:p.Ser271Phe
ENST00000348749.9:c.737C>T MANE Select	ENSP00000261008.5:p.Ser246Phe
ENST00000409219.5:c.737C>T	ENSP00000386611.1:p.Ser246Phe
ENST00000409323.1:c.737C>T	ENSP00000386684.1:p.Ser246Phe
ENST00000409542.5:c.491C>T	ENSP00000387026.1:p.Ser164Phe
ENST00000435083.5:c.*381C>T	ENSP00000395805.1:n.*381C>T
NM_000079.3:c.737C>T	NP_000070.1:p.Ser246Phe
NM_001039523.2:c.812C>T	NP_001034612.1:p.Ser271Phe
XM_017003256.1:c.833C>T	XP_016858745.1:p.Ser278Phe
XM_017003257.1:c.758C>T	XP_016858746.1:p.Ser253Phe
NM_000079.4:c.737C>T MANE Select	NP_000070.1:p.Ser246Phe
NM_001039523.3:c.812C>T	NP_001034612.1:p.Ser271Phe