Canonical Allele Identifier: CA1308834043
Community Standard Title: NM_000079.4(CHRNA1):c.737C= (p.Ser246=)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753544G= , CM000664.2:g.174753544G= GRCh38
NC_000002.11:g.175618272G= , CM000664.1:g.175618272G= GRCh37
NC_000002.10:g.175326518G= NCBI36
NG_008172.1:g.15929C=

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.737C= MANE Select NP_000070.1:p.Ser246=
ENST00000348749.9:c.737C= MANE Select ENSP00000261008.5:p.Ser246=
NM_000079.3:c.737C= NP_000070.1:p.Ser246=
NM_001039523.2:c.812C= NP_001034612.1:p.Ser271=
NM_001039523.3:c.812C= NP_001034612.1:p.Ser271=
ENST00000261007.9:c.812C= ENSP00000261007.5:p.Ser271=
ENST00000409219.5:c.737C= ENSP00000386611.1:p.Ser246=
ENST00000409323.1:c.737C= ENSP00000386684.1:p.Ser246=
ENST00000409542.5:c.491C= ENSP00000387026.1:p.Ser164=
ENST00000435083.5:c.*381C= ENSP00000395805.1:n.*381C=
ENST00000636168.2:c.248C= ENSP00000490338.2:p.Ser83=
ENST00000672640.1:c.248C= ENSP00000500507.1:p.Ser83=
XM_017003256.1:c.833C= XP_016858745.1:p.Ser278=
XM_017003257.1:c.758C= XP_016858746.1:p.Ser253=