Canonical Allele Identifier: CA1974348

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748633C>T , CM000664.2:g.174748633C>T	GRCh38
NC_000002.11:g.175613361C>T , CM000664.1:g.175613361C>T	GRCh37
NC_000002.10:g.175321607C>T	NCBI36
NG_008172.1:g.20840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.700G>A	ENSP00000490338.2:p.Glu234Lys
ENST00000672640.1:c.700G>A	ENSP00000500507.1:p.Glu234Lys
ENST00000261007.9:c.1264G>A	ENSP00000261007.5:p.Glu422Lys
ENST00000348749.9:c.1189G>A MANE Select	ENSP00000261008.5:p.Glu397Lys
ENST00000409219.5:c.1003-378G>A	ENSP00000386611.1:n.1003-378G>A
ENST00000409542.5:c.943G>A	ENSP00000387026.1:p.Glu315Lys
ENST00000435083.5:c.*833G>A	ENSP00000395805.1:n.*833G>A
NM_000079.3:c.1189G>A	NP_000070.1:p.Glu397Lys
NM_001039523.2:c.1264G>A	NP_001034612.1:p.Glu422Lys
XM_017003256.1:c.1285G>A	XP_016858745.1:p.Glu429Lys
XM_017003257.1:c.1210G>A	XP_016858746.1:p.Glu404Lys
NM_000079.4:c.1189G>A MANE Select	NP_000070.1:p.Glu397Lys
NM_001039523.3:c.1264G>A	NP_001034612.1:p.Glu422Lys