Canonical Allele Identifier: CA1974423

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750013G>T , CM000664.2:g.174750013G>T	GRCh38
NC_000002.11:g.175614741G>T , CM000664.1:g.175614741G>T	GRCh37
NC_000002.10:g.175322987G>T	NCBI36
NG_008172.1:g.19460C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.935C>A MANE Select	NP_000070.1:p.Thr312Asn
ENST00000348749.9:c.935C>A MANE Select	ENSP00000261008.5:p.Thr312Asn
NM_000079.3:c.935C>A	NP_000070.1:p.Thr312Asn
NM_001039523.2:c.1010C>A	NP_001034612.1:p.Thr337Asn
NM_001039523.3:c.1010C>A	NP_001034612.1:p.Thr337Asn
ENST00000261007.9:c.1010C>A	ENSP00000261007.5:p.Thr337Asn
ENST00000409219.5:c.935C>A	ENSP00000386611.1:p.Thr312Asn
ENST00000409542.5:c.689C>A	ENSP00000387026.1:p.Thr230Asn
ENST00000435083.5:c.*579C>A	ENSP00000395805.1:n.*579C>A
ENST00000636168.2:c.446C>A	ENSP00000490338.2:p.Thr149Asn
ENST00000672640.1:c.446C>A	ENSP00000500507.1:p.Thr149Asn
XM_017003256.1:c.1031C>A	XP_016858745.1:p.Thr344Asn
XM_017003257.1:c.956C>A	XP_016858746.1:p.Thr319Asn