Canonical Allele Identifier: CA1974349

Gene: CHRNA1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174748638G>A , CM000664.2:g.174748638G>A	GRCh38
NC_000002.11:g.175613366G>A , CM000664.1:g.175613366G>A	GRCh37
NC_000002.10:g.175321612G>A	NCBI36
NG_008172.1:g.20835C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000079.4:c.1184C>T MANE Select	NP_000070.1:p.Ala395Val
ENST00000348749.9:c.1184C>T MANE Select	ENSP00000261008.5:p.Ala395Val
NM_000079.3:c.1184C>T	NP_000070.1:p.Ala395Val
NM_001039523.2:c.1259C>T	NP_001034612.1:p.Ala420Val
NM_001039523.3:c.1259C>T	NP_001034612.1:p.Ala420Val
ENST00000261007.9:c.1259C>T	ENSP00000261007.5:p.Ala420Val
ENST00000409219.5:c.1003-383C>T	ENSP00000386611.1:n.1003-383C>T
ENST00000409542.5:c.938C>T	ENSP00000387026.1:p.Ala313Val
ENST00000435083.5:c.*828C>T	ENSP00000395805.1:n.*828C>T
ENST00000636168.2:c.695C>T	ENSP00000490338.2:p.Ala232Val
ENST00000672640.1:c.695C>T	ENSP00000500507.1:p.Ala232Val
XM_017003256.1:c.1280C>T	XP_016858745.1:p.Ala427Val
XM_017003257.1:c.1205C>T	XP_016858746.1:p.Ala402Val