Canonical Allele Identifier: CA371102583
Gene: CHRNB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732541A>G , CM000670.2:g.42732541A>G GRCh38
NC_000008.10:g.42587684A>G , CM000670.1:g.42587684A>G GRCh37
NC_000008.9:g.42706841A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1234A>G MANE Select ENSP00000289957.2:p.Ile412Val
ENST00000289957.2:c.1234A>G ENSP00000289957.2:p.Ile412Val
NM_000749.3:c.1234A>G NP_000740.1:p.Ile412Val
XM_011544390.1:c.847A>G XP_011542692.1:p.Ile283Val
NM_000749.4:c.1234A>G NP_000740.1:p.Ile412Val
NM_001347717.1:c.1012A>G NP_001334646.1:p.Ile338Val
XM_011544390.2:c.847A>G XP_011542692.1:p.Ile283Val
NM_000749.5:c.1234A>G MANE Select NP_000740.1:p.Ile412Val
NM_001347717.2:c.1012A>G NP_001334646.1:p.Ile338Val