Canonical Allele Identifier: CA371102604

Gene: CHRNB3

Linked Data

• dbSNP Id: rs1313160122
• gnomAD v4: 8-42732549-G-T
• MyVariant Identifiers: chr8:g.42587692G>T (hg19) ; chr8:g.42732549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732549G>T , CM000670.2:g.42732549G>T	GRCh38
NC_000008.10:g.42587692G>T , CM000670.1:g.42587692G>T	GRCh37
NC_000008.9:g.42706849G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242G>T MANE Select	ENSP00000289957.2:p.Gln414His
ENST00000289957.2:c.1242G>T	ENSP00000289957.2:p.Gln414His
NM_000749.3:c.1242G>T	NP_000740.1:p.Gln414His
XM_011544390.1:c.855G>T	XP_011542692.1:p.Gln285His
NM_000749.4:c.1242G>T	NP_000740.1:p.Gln414His
NM_001347717.1:c.1020G>T	NP_001334646.1:p.Gln340His
XM_011544390.2:c.855G>T	XP_011542692.1:p.Gln285His
NM_000749.5:c.1242G>T MANE Select	NP_000740.1:p.Gln414His
NM_001347717.2:c.1020G>T	NP_001334646.1:p.Gln340His