Canonical Allele Identifier: CA349336128

Gene: CHRNA1

Linked Data

• COSMIC: COSM6088304
• MyVariant Identifiers: chr2:g.175614714C>A (hg19) ; chr2:g.174749986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174749986C>A , CM000664.2:g.174749986C>A	GRCh38
NC_000002.11:g.175614714C>A , CM000664.1:g.175614714C>A	GRCh37
NC_000002.10:g.175322960C>A	NCBI36
NG_008172.1:g.19487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.473G>T	ENSP00000490338.2:p.Arg158Leu
ENST00000672640.1:c.473G>T	ENSP00000500507.1:p.Arg158Leu
ENST00000261007.9:c.1037G>T	ENSP00000261007.5:p.Arg346Leu
ENST00000348749.9:c.962G>T MANE Select	ENSP00000261008.5:p.Arg321Leu
ENST00000409219.5:c.962G>T	ENSP00000386611.1:p.Arg321Leu
ENST00000409542.5:c.716G>T	ENSP00000387026.1:p.Arg239Leu
ENST00000435083.5:c.*606G>T	ENSP00000395805.1:n.*606G>T
NM_000079.3:c.962G>T	NP_000070.1:p.Arg321Leu
NM_001039523.2:c.1037G>T	NP_001034612.1:p.Arg346Leu
XM_017003256.1:c.1058G>T	XP_016858745.1:p.Arg353Leu
XM_017003257.1:c.983G>T	XP_016858746.1:p.Arg328Leu
NM_000079.4:c.962G>T MANE Select	NP_000070.1:p.Arg321Leu
NM_001039523.3:c.1037G>T	NP_001034612.1:p.Arg346Leu