Canonical Allele Identifier: CA349336002

Gene: CHRNA1

Linked Data

• gnomAD v4: 2-174749963-G-T
• MyVariant Identifiers: chr2:g.175614691G>T (hg19) ; chr2:g.174749963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174749963G>T , CM000664.2:g.174749963G>T	GRCh38
NC_000002.11:g.175614691G>T , CM000664.1:g.175614691G>T	GRCh37
NC_000002.10:g.175322937G>T	NCBI36
NG_008172.1:g.19510C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.496C>A	ENSP00000490338.2:p.Pro166Thr
ENST00000672640.1:c.496C>A	ENSP00000500507.1:p.Pro166Thr
ENST00000261007.9:c.1060C>A	ENSP00000261007.5:p.Pro354Thr
ENST00000348749.9:c.985C>A MANE Select	ENSP00000261008.5:p.Pro329Thr
ENST00000409219.5:c.985C>A	ENSP00000386611.1:p.Pro329Thr
ENST00000409542.5:c.739C>A	ENSP00000387026.1:p.Pro247Thr
ENST00000435083.5:c.*629C>A	ENSP00000395805.1:n.*629C>A
NM_000079.3:c.985C>A	NP_000070.1:p.Pro329Thr
NM_001039523.2:c.1060C>A	NP_001034612.1:p.Pro354Thr
XM_017003256.1:c.1081C>A	XP_016858745.1:p.Pro361Thr
XM_017003257.1:c.1006C>A	XP_016858746.1:p.Pro336Thr
NM_000079.4:c.985C>A MANE Select	NP_000070.1:p.Pro329Thr
NM_001039523.3:c.1060C>A	NP_001034612.1:p.Pro354Thr