Canonical Allele Identifier: CA371102592

Gene: CHRNB3

Linked Data

• gnomAD v4: 8-42732545-G-C
• MyVariant Identifiers: chr8:g.42587688G>C (hg19) ; chr8:g.42732545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732545G>C , CM000670.2:g.42732545G>C	GRCh38
NC_000008.10:g.42587688G>C , CM000670.1:g.42587688G>C	GRCh37
NC_000008.9:g.42706845G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1238G>C MANE Select	ENSP00000289957.2:p.Ser413Thr
ENST00000289957.2:c.1238G>C	ENSP00000289957.2:p.Ser413Thr
NM_000749.3:c.1238G>C	NP_000740.1:p.Ser413Thr
XM_011544390.1:c.851G>C	XP_011542692.1:p.Ser284Thr
NM_000749.4:c.1238G>C	NP_000740.1:p.Ser413Thr
NM_001347717.1:c.1016G>C	NP_001334646.1:p.Ser339Thr
XM_011544390.2:c.851G>C	XP_011542692.1:p.Ser284Thr
NM_000749.5:c.1238G>C MANE Select	NP_000740.1:p.Ser413Thr
NM_001347717.2:c.1016G>C	NP_001334646.1:p.Ser339Thr