Canonical Allele Identifier: CA371102540
Gene: CHRNB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42732523G>T , CM000670.2:g.42732523G>T GRCh38
NC_000008.10:g.42587666G>T , CM000670.1:g.42587666G>T GRCh37
NC_000008.9:g.42706823G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289957.3:c.1216G>T MANE Select ENSP00000289957.2:p.Val406Leu
ENST00000289957.2:c.1216G>T ENSP00000289957.2:p.Val406Leu
NM_000749.3:c.1216G>T NP_000740.1:p.Val406Leu
XM_011544390.1:c.829G>T XP_011542692.1:p.Val277Leu
NM_000749.4:c.1216G>T NP_000740.1:p.Val406Leu
NM_001347717.1:c.994G>T NP_001334646.1:p.Val332Leu
XM_011544390.2:c.829G>T XP_011542692.1:p.Val277Leu
NM_000749.5:c.1216G>T MANE Select NP_000740.1:p.Val406Leu
NM_001347717.2:c.994G>T NP_001334646.1:p.Val332Leu