Canonical Allele Identifier: CA1974603
Community Standard Title: NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174757630C>A , CM000664.2:g.174757630C>A GRCh38
NC_000002.11:g.175622358C>A , CM000664.1:g.175622358C>A GRCh37
NC_000002.10:g.175330604C>A NCBI36
NG_008172.1:g.11843G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.280G>T MANE Select NP_000070.1:p.Gly94Cys
ENST00000348749.9:c.280G>T MANE Select ENSP00000261008.5:p.Gly94Cys
NM_000079.3:c.280G>T NP_000070.1:p.Gly94Cys
NM_001039523.2:c.355G>T NP_001034612.1:p.Gly119Cys
NM_001039523.3:c.355G>T NP_001034612.1:p.Gly119Cys
ENST00000261007.9:c.355G>T ENSP00000261007.5:p.Gly119Cys
ENST00000409219.5:c.280G>T ENSP00000386611.1:p.Gly94Cys
ENST00000409323.1:c.280G>T ENSP00000386684.1:p.Gly94Cys
ENST00000409542.5:c.234+1701G>T ENSP00000387026.1:n.234+1701G>T
ENST00000435083.5:c.234+1701G>T ENSP00000395805.1:n.234+1701G>T
ENST00000636168.2:c.-210G>T ENSP00000490338.2:n.-210G>T
ENST00000672640.1:c.-210G>T ENSP00000500507.1:n.-210G>T
XM_017003256.1:c.376G>T XP_016858745.1:p.Gly126Cys
XM_017003257.1:c.301G>T XP_016858746.1:p.Gly101Cys