Canonical Allele Identifier: CA371102528

Gene: CHRNB3

Linked Data

• MyVariant Identifiers: chr8:g.42587661G>T (hg19) ; chr8:g.42732518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42732518G>T , CM000670.2:g.42732518G>T	GRCh38
NC_000008.10:g.42587661G>T , CM000670.1:g.42587661G>T	GRCh37
NC_000008.9:g.42706818G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289957.3:c.1211G>T MANE Select	ENSP00000289957.2:p.Arg404Ile
ENST00000289957.2:c.1211G>T	ENSP00000289957.2:p.Arg404Ile
NM_000749.3:c.1211G>T	NP_000740.1:p.Arg404Ile
XM_011544390.1:c.824G>T	XP_011542692.1:p.Arg275Ile
NM_000749.4:c.1211G>T	NP_000740.1:p.Arg404Ile
NM_001347717.1:c.989G>T	NP_001334646.1:p.Arg330Ile
XM_011544390.2:c.824G>T	XP_011542692.1:p.Arg275Ile
NM_000749.5:c.1211G>T MANE Select	NP_000740.1:p.Arg404Ile
NM_001347717.2:c.989G>T	NP_001334646.1:p.Arg330Ile