Canonical Allele Identifier: CA1308834101
Community Standard Title: NM_000079.4(CHRNA1):c.622G= (p.Val208=)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753659C= , CM000664.2:g.174753659C= GRCh38
NC_000002.11:g.175618387C= , CM000664.1:g.175618387C= GRCh37
NC_000002.10:g.175326633C= NCBI36
NG_008172.1:g.15814G=

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.622G= MANE Select NP_000070.1:p.Val208=
ENST00000348749.9:c.622G= MANE Select ENSP00000261008.5:p.Val208=
NM_000079.3:c.622G= NP_000070.1:p.Val208=
NM_001039523.2:c.697G= NP_001034612.1:p.Val233=
NM_001039523.3:c.697G= NP_001034612.1:p.Val233=
ENST00000261007.9:c.697G= ENSP00000261007.5:p.Val233=
ENST00000409219.5:c.622G= ENSP00000386611.1:p.Val208=
ENST00000409323.1:c.622G= ENSP00000386684.1:p.Val208=
ENST00000409542.5:c.376G= ENSP00000387026.1:p.Val126=
ENST00000435083.5:c.*266G= ENSP00000395805.1:n.*266G=
ENST00000636168.2:c.133G= ENSP00000490338.2:p.Val45=
ENST00000672640.1:c.133G= ENSP00000500507.1:p.Val45=
XM_017003256.1:c.718G= XP_016858745.1:p.Val240=
XM_017003257.1:c.643G= XP_016858746.1:p.Val215=