Canonical Allele Identifier: CA581623661

Gene: CHRNB3

Linked Data

• dbSNP Id: rs1189711544
• gnomAD v2: 8-42587743-C-T
• gnomAD v3: 8-42732600-C-T
• gnomAD v4: 8-42732600-C-T
• MyVariant Identifiers: chr8:g.42587743C>T (hg19) ; chr8:g.42732600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732600C>T , CM000670.2:g.42732600C>T	GRCh38
NC_000008.10:g.42587743C>T , CM000670.1:g.42587743C>T	GRCh37
NC_000008.9:g.42706900C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1242+51C>T MANE Select	ENSP00000289957.2:n.1242+51C>T
ENST00000289957.2:c.1242+51C>T	ENSP00000289957.2:n.1242+51C>T
NM_000749.3:c.1242+51C>T	NP_000740.1:n.1242+51C>T
XM_011544390.1:c.855+51C>T	XP_011542692.1:n.855+51C>T
NM_000749.4:c.1242+51C>T	NP_000740.1:n.1242+51C>T
NM_001347717.1:c.1020+51C>T	NP_001334646.1:n.1020+51C>T
XM_011544390.2:c.855+51C>T	XP_011542692.1:n.855+51C>T
NM_000749.5:c.1242+51C>T MANE Select	NP_000740.1:n.1242+51C>T
NM_001347717.2:c.1020+51C>T	NP_001334646.1:n.1020+51C>T