Canonical Allele Identifier: CA258177
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753570G>C , CM000664.2:g.174753570G>C GRCh38
NC_000002.11:g.175618298G>C , CM000664.1:g.175618298G>C GRCh37
NC_000002.10:g.175326544G>C NCBI36
NG_008172.1:g.15903C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.222C>G ENSP00000490338.2:p.Asn74Lys
ENST00000672640.1:c.222C>G ENSP00000500507.1:p.Asn74Lys
ENST00000261007.9:c.786C>G ENSP00000261007.5:p.Asn262Lys
ENST00000348749.9:c.711C>G MANE Select ENSP00000261008.5:p.Asn237Lys
ENST00000409219.5:c.711C>G ENSP00000386611.1:p.Asn237Lys
ENST00000409323.1:c.711C>G ENSP00000386684.1:p.Asn237Lys
ENST00000409542.5:c.465C>G ENSP00000387026.1:p.Asn155Lys
ENST00000435083.5:c.*355C>G ENSP00000395805.1:n.*355C>G
NM_000079.3:c.711C>G NP_000070.1:p.Asn237Lys
NM_001039523.2:c.786C>G NP_001034612.1:p.Asn262Lys
XM_017003256.1:c.807C>G XP_016858745.1:p.Asn269Lys
XM_017003257.1:c.732C>G XP_016858746.1:p.Asn244Lys
NM_000079.4:c.711C>G MANE Select NP_000070.1:p.Asn237Lys
NM_001039523.3:c.786C>G NP_001034612.1:p.Asn262Lys