Canonical Allele Identifier: CA258189

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748184G>C , CM000664.2:g.174748184G>C	GRCh38
NC_000002.11:g.175612912G>C , CM000664.1:g.175612912G>C	GRCh37
NC_000002.10:g.175321158G>C	NCBI36
NG_008172.1:g.21289C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.825C>G	ENSP00000490338.2:p.Cys275Trp
ENST00000672640.1:c.825C>G	ENSP00000500507.1:p.Cys275Trp
ENST00000261007.9:c.1389C>G	ENSP00000261007.5:p.Cys463Trp
ENST00000348749.9:c.1314C>G MANE Select	ENSP00000261008.5:p.Cys438Trp
ENST00000409219.5:c.1074C>G	ENSP00000386611.1:p.Cys358Trp
ENST00000409542.5:c.1068C>G	ENSP00000387026.1:p.Cys356Trp
ENST00000435083.5:c.*958C>G	ENSP00000395805.1:n.*958C>G
NM_000079.3:c.1314C>G	NP_000070.1:p.Cys438Trp
NM_001039523.2:c.1389C>G	NP_001034612.1:p.Cys463Trp
XM_017003256.1:c.1410C>G	XP_016858745.1:p.Cys470Trp
XM_017003257.1:c.1335C>G	XP_016858746.1:p.Cys445Trp
NM_000079.4:c.1314C>G MANE Select	NP_000070.1:p.Cys438Trp
NM_001039523.3:c.1389C>G	NP_001034612.1:p.Cys463Trp