Canonical Allele Identifier: CA1974694
Community Standard Title: NM_000079.4(CHRNA1):c.137G>A (p.Arg46His)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174759540C>T , CM000664.2:g.174759540C>T GRCh38
NC_000002.11:g.175624268C>T , CM000664.1:g.175624268C>T GRCh37
NC_000002.10:g.175332514C>T NCBI36
NG_008172.1:g.9933G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.137G>A MANE Select NP_000070.1:p.Arg46His
ENST00000348749.9:c.137G>A MANE Select ENSP00000261008.5:p.Arg46His
NM_000079.3:c.137G>A NP_000070.1:p.Arg46His
NM_001039523.2:c.137G>A NP_001034612.1:p.Arg46His
NM_001039523.3:c.137G>A NP_001034612.1:p.Arg46His
ENST00000261007.9:c.137G>A ENSP00000261007.5:p.Arg46His
ENST00000409219.5:c.137G>A ENSP00000386611.1:p.Arg46His
ENST00000409323.1:c.137G>A ENSP00000386684.1:p.Arg46His
ENST00000409542.5:c.137G>A ENSP00000387026.1:p.Arg46His
ENST00000435083.5:c.137G>A ENSP00000395805.1:p.Arg46His
ENST00000636168.2:c.-353G>A ENSP00000490338.2:n.-353G>A
ENST00000672640.1:c.-353G>A ENSP00000500507.1:n.-353G>A
XM_017003256.1:c.158G>A XP_016858745.1:p.Arg53His
XM_017003257.1:c.158G>A XP_016858746.1:p.Arg53His