Canonical Allele Identifier: CA349336620
Gene: CHRNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750079G>T , CM000664.2:g.174750079G>T GRCh38
NC_000002.11:g.175614807G>T , CM000664.1:g.175614807G>T GRCh37
NC_000002.10:g.175323053G>T NCBI36
NG_008172.1:g.19394C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.380C>A ENSP00000490338.2:p.Ala127Asp
ENST00000672640.1:c.380C>A ENSP00000500507.1:p.Ala127Asp
ENST00000261007.9:c.944C>A ENSP00000261007.5:p.Ala315Asp
ENST00000348749.9:c.869C>A MANE Select ENSP00000261008.5:p.Ala290Asp
ENST00000409219.5:c.869C>A ENSP00000386611.1:p.Ala290Asp
ENST00000409542.5:c.623C>A ENSP00000387026.1:p.Ala208Asp
ENST00000435083.5:c.*513C>A ENSP00000395805.1:n.*513C>A
NM_000079.3:c.869C>A NP_000070.1:p.Ala290Asp
NM_001039523.2:c.944C>A NP_001034612.1:p.Ala315Asp
XM_017003256.1:c.965C>A XP_016858745.1:p.Ala322Asp
XM_017003257.1:c.890C>A XP_016858746.1:p.Ala297Asp
NM_000079.4:c.869C>A MANE Select NP_000070.1:p.Ala290Asp
NM_001039523.3:c.944C>A NP_001034612.1:p.Ala315Asp