Canonical Allele Identifier: CA349336325

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614757C>A (hg19) ; chr2:g.174750029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750029C>A , CM000664.2:g.174750029C>A	GRCh38
NC_000002.11:g.175614757C>A , CM000664.1:g.175614757C>A	GRCh37
NC_000002.10:g.175323003C>A	NCBI36
NG_008172.1:g.19444G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.430G>T	ENSP00000490338.2:p.Ala144Ser
ENST00000672640.1:c.430G>T	ENSP00000500507.1:p.Ala144Ser
ENST00000261007.9:c.994G>T	ENSP00000261007.5:p.Ala332Ser
ENST00000348749.9:c.919G>T MANE Select	ENSP00000261008.5:p.Ala307Ser
ENST00000409219.5:c.919G>T	ENSP00000386611.1:p.Ala307Ser
ENST00000409542.5:c.673G>T	ENSP00000387026.1:p.Ala225Ser
ENST00000435083.5:c.*563G>T	ENSP00000395805.1:n.*563G>T
NM_000079.3:c.919G>T	NP_000070.1:p.Ala307Ser
NM_001039523.2:c.994G>T	NP_001034612.1:p.Ala332Ser
XM_017003256.1:c.1015G>T	XP_016858745.1:p.Ala339Ser
XM_017003257.1:c.940G>T	XP_016858746.1:p.Ala314Ser
NM_000079.4:c.919G>T MANE Select	NP_000070.1:p.Ala307Ser
NM_001039523.3:c.994G>T	NP_001034612.1:p.Ala332Ser