Canonical Allele Identifier: CA1974734
Community Standard Title: NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174764394T>C , CM000664.2:g.174764394T>C GRCh38
NC_000002.11:g.175629122T>C , CM000664.1:g.175629122T>C GRCh37
NC_000002.10:g.175337368T>C NCBI36
NG_008172.1:g.5079A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.1A>G MANE Select NP_000070.1:p.Met1Val
ENST00000348749.9:c.1A>G MANE Select ENSP00000261008.5:p.Met1Val
NM_000079.3:c.1A>G NP_000070.1:p.Met1Val
NM_001039523.2:c.1A>G NP_001034612.1:p.Met1Val
NM_001039523.3:c.1A>G NP_001034612.1:p.Met1Val
ENST00000261007.9:c.1A>G ENSP00000261007.5:p.Met1Val
ENST00000409219.5:c.1A>G ENSP00000386611.1:p.Met1Val
ENST00000409323.1:c.1A>G ENSP00000386684.1:p.Met1Val
ENST00000409542.5:c.1A>G ENSP00000387026.1:p.Met1Val
ENST00000435083.5:c.1A>G ENSP00000395805.1:p.Met1Val
ENST00000636168.2:c.-446-4761A>G ENSP00000490338.2:n.-446-4761A>G
ENST00000672640.1:c.-613A>G ENSP00000500507.1:n.-613A>G