Canonical Allele Identifier: CA430022793
Gene: CHRNA1 HGNC NCBI

Linked Data

dbSNP Id: rs545520806
MyVariant Identifiers: chr2:g.175618322G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753594G>T , CM000664.2:g.174753594G>T GRCh38
NC_000002.11:g.175618322G>T , CM000664.1:g.175618322G>T GRCh37
NC_000002.10:g.175326568G>T NCBI36
NG_008172.1:g.15879C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636168.2:c.198C>A ENSP00000490338.2:p.Arg66=
ENST00000672640.1:c.198C>A ENSP00000500507.1:p.Arg66=
ENST00000261007.9:c.762C>A ENSP00000261007.5:p.Arg254=
ENST00000348749.9:c.687C>A MANE Select ENSP00000261008.5:p.Arg229=
ENST00000409219.5:c.687C>A ENSP00000386611.1:p.Arg229=
ENST00000409323.1:c.687C>A ENSP00000386684.1:p.Arg229=
ENST00000409542.5:c.441C>A ENSP00000387026.1:p.Arg147=
ENST00000435083.5:c.*331C>A ENSP00000395805.1:n.*331C>A
NM_000079.3:c.687C>A NP_000070.1:p.Arg229=
NM_001039523.2:c.762C>A NP_001034612.1:p.Arg254=
XM_017003256.1:c.783C>A XP_016858745.1:p.Arg261=
XM_017003257.1:c.708C>A XP_016858746.1:p.Arg236=
NM_000079.4:c.687C>A MANE Select NP_000070.1:p.Arg229=
NM_001039523.3:c.762C>A NP_001034612.1:p.Arg254=