Canonical Allele Identifier: CA60860979
Community Standard Title: NM_000079.4(CHRNA1):c.43+195C>G
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174764157G>C , CM000664.2:g.174764157G>C GRCh38
NC_000002.11:g.175628885G>C , CM000664.1:g.175628885G>C GRCh37
NC_000002.10:g.175337131G>C NCBI36
NG_008172.1:g.5316C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.43+195C>G MANE Select NP_000070.1:n.43+195C>G
ENST00000348749.9:c.43+195C>G MANE Select ENSP00000261008.5:n.43+195C>G
NM_000079.3:c.43+195C>G NP_000070.1:n.43+195C>G
NM_001039523.2:c.43+195C>G NP_001034612.1:n.43+195C>G
NM_001039523.3:c.43+195C>G NP_001034612.1:n.43+195C>G
ENST00000261007.9:c.43+195C>G ENSP00000261007.5:n.43+195C>G
ENST00000409219.5:c.43+195C>G ENSP00000386611.1:n.43+195C>G
ENST00000409323.1:c.43+195C>G ENSP00000386684.1:n.43+195C>G
ENST00000409542.5:c.43+195C>G ENSP00000387026.1:n.43+195C>G
ENST00000435083.5:c.43+195C>G ENSP00000395805.1:n.43+195C>G
ENST00000636168.2:c.-446-4524C>G ENSP00000490338.2:n.-446-4524C>G
ENST00000672640.1:c.-570-13C>G ENSP00000500507.1:n.-570-13C>G