Canonical Allele Identifier: CA2687122782
Gene: CHRNB3 HGNC NCBI

Linked Data

gnomAD v4: 8-42732628-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732628A>T , CM000670.2:g.42732628A>T GRCh38
NC_000008.10:g.42587771A>T , CM000670.1:g.42587771A>T GRCh37
NC_000008.9:g.42706928A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1242+79A>T MANE Select ENSP00000289957.2:n.1242+79A>T
ENST00000289957.2:c.1242+79A>T ENSP00000289957.2:n.1242+79A>T
NM_000749.3:c.1242+79A>T NP_000740.1:n.1242+79A>T
XM_011544390.1:c.855+79A>T XP_011542692.1:n.855+79A>T
NM_000749.4:c.1242+79A>T NP_000740.1:n.1242+79A>T
NM_001347717.1:c.1020+79A>T NP_001334646.1:n.1020+79A>T
XM_011544390.2:c.855+79A>T XP_011542692.1:n.855+79A>T
NM_000749.5:c.1242+79A>T MANE Select NP_000740.1:n.1242+79A>T
NM_001347717.2:c.1020+79A>T NP_001334646.1:n.1020+79A>T