Canonical Allele Identifier: CA430022322

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614761G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750033G>A , CM000664.2:g.174750033G>A	GRCh38
NC_000002.11:g.175614761G>A , CM000664.1:g.175614761G>A	GRCh37
NC_000002.10:g.175323007G>A	NCBI36
NG_008172.1:g.19440C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.426C>T	ENSP00000490338.2:p.Val142=
ENST00000672640.1:c.426C>T	ENSP00000500507.1:p.Val142=
ENST00000261007.9:c.990C>T	ENSP00000261007.5:p.Val330=
ENST00000348749.9:c.915C>T MANE Select	ENSP00000261008.5:p.Val305=
ENST00000409219.5:c.915C>T	ENSP00000386611.1:p.Val305=
ENST00000409542.5:c.669C>T	ENSP00000387026.1:p.Val223=
ENST00000435083.5:c.*559C>T	ENSP00000395805.1:n.*559C>T
NM_000079.3:c.915C>T	NP_000070.1:p.Val305=
NM_001039523.2:c.990C>T	NP_001034612.1:p.Val330=
XM_017003256.1:c.1011C>T	XP_016858745.1:p.Val337=
XM_017003257.1:c.936C>T	XP_016858746.1:p.Val312=
NM_000079.4:c.915C>T MANE Select	NP_000070.1:p.Val305=
NM_001039523.3:c.990C>T	NP_001034612.1:p.Val330=