Canonical Allele Identifier: CA1974337
Community Standard Title: NM_000079.4(CHRNA1):c.1242+10G>A
Gene: CHRNA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174748570C>T , CM000664.2:g.174748570C>T GRCh38
NC_000002.11:g.175613298C>T , CM000664.1:g.175613298C>T GRCh37
NC_000002.10:g.175321544C>T NCBI36
NG_008172.1:g.20903G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000079.4:c.1242+10G>A MANE Select NP_000070.1:n.1242+10G>A
ENST00000348749.9:c.1242+10G>A MANE Select ENSP00000261008.5:n.1242+10G>A
NM_000079.3:c.1242+10G>A NP_000070.1:n.1242+10G>A
NM_001039523.2:c.1317+10G>A NP_001034612.1:n.1317+10G>A
NM_001039523.3:c.1317+10G>A NP_001034612.1:n.1317+10G>A
ENST00000261007.9:c.1317+10G>A ENSP00000261007.5:n.1317+10G>A
ENST00000409219.5:c.1003-315G>A ENSP00000386611.1:n.1003-315G>A
ENST00000409542.5:c.996+10G>A ENSP00000387026.1:n.996+10G>A
ENST00000435083.5:c.*886+10G>A ENSP00000395805.1:n.*886+10G>A
ENST00000636168.2:c.753+10G>A ENSP00000490338.2:n.753+10G>A
ENST00000672640.1:c.753+10G>A ENSP00000500507.1:n.753+10G>A
XM_017003256.1:c.1338+10G>A XP_016858745.1:n.1338+10G>A
XM_017003257.1:c.1263+10G>A XP_016858746.1:n.1263+10G>A