Canonical Allele Identifier: CA60849004

Gene: CHRNA1

Linked Data

• dbSNP Id: rs1045878328
• MyVariant Identifiers: chr2:g.175614820A>C (hg19) ; chr2:g.174750092A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750092A>C , CM000664.2:g.174750092A>C	GRCh38
NC_000002.11:g.175614820A>C , CM000664.1:g.175614820A>C	GRCh37
NC_000002.10:g.175323066A>C	NCBI36
NG_008172.1:g.19381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.367T>G	ENSP00000490338.2:p.Ser123Ala
ENST00000672640.1:c.367T>G	ENSP00000500507.1:p.Ser123Ala
ENST00000261007.9:c.931T>G	ENSP00000261007.5:p.Ser311Ala
ENST00000348749.9:c.856T>G MANE Select	ENSP00000261008.5:p.Ser286Ala
ENST00000409219.5:c.856T>G	ENSP00000386611.1:p.Ser286Ala
ENST00000409542.5:c.610T>G	ENSP00000387026.1:p.Ser204Ala
ENST00000435083.5:c.*500T>G	ENSP00000395805.1:n.*500T>G
NM_000079.3:c.856T>G	NP_000070.1:p.Ser286Ala
NM_001039523.2:c.931T>G	NP_001034612.1:p.Ser311Ala
XM_017003256.1:c.952T>G	XP_016858745.1:p.Ser318Ala
XM_017003257.1:c.877T>G	XP_016858746.1:p.Ser293Ala
NM_000079.4:c.856T>G MANE Select	NP_000070.1:p.Ser286Ala
NM_001039523.3:c.931T>G	NP_001034612.1:p.Ser311Ala