Canonical Allele Identifier: CA342630728

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571559-G-T
• MyVariant Identifiers: chr1:g.154544035G>T (hg19) ; chr1:g.154571559G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571559G>T , CM000663.2:g.154571559G>T	GRCh38
NC_000001.10:g.154544035G>T , CM000663.1:g.154544035G>T	GRCh37
NC_000001.9:g.152810659G>T	NCBI36
NG_008027.1:g.8779G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.736G>T MANE Select	ENSP00000357461.3:p.Val246Leu
ENST00000636034.1:c.736G>T	ENSP00000489703.1:p.Val246Leu
ENST00000637900.1:c.742G>T	ENSP00000490474.1:p.Val248Leu
ENST00000368476.3:c.736G>T	ENSP00000357461.3:p.Val246Leu
NM_000748.2:c.736G>T	NP_000739.1:p.Val246Leu
XM_017000180.2:c.226G>T	XP_016855669.1:p.Val76Leu
XR_001736952.2:n.988G>T
NM_000748.3:c.736G>T MANE Select	NP_000739.1:p.Val246Leu