Canonical Allele Identifier: CA349340841

Gene: CHRNA1

Linked Data

• dbSNP Id: rs137852799
• gnomAD v2: 2-175618961-C-A
• gnomAD v4: 2-174754233-C-A
• MyVariant Identifiers: chr2:g.175618961C>A (hg19) ; chr2:g.174754233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754233C>A , CM000664.2:g.174754233C>A	GRCh38
NC_000002.11:g.175618961C>A , CM000664.1:g.175618961C>A	GRCh37
NC_000002.10:g.175327207C>A	NCBI36
NG_008172.1:g.15240G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.37G>T	ENSP00000490338.2:p.Val13Leu
ENST00000672640.1:c.37G>T	ENSP00000500507.1:p.Val13Leu
ENST00000261007.9:c.601G>T	ENSP00000261007.5:p.Val201Leu
ENST00000348749.9:c.526G>T MANE Select	ENSP00000261008.5:p.Val176Leu
ENST00000409219.5:c.526G>T	ENSP00000386611.1:p.Val176Leu
ENST00000409323.1:c.526G>T	ENSP00000386684.1:p.Val176Leu
ENST00000409542.5:c.280G>T	ENSP00000387026.1:p.Val94Leu
ENST00000435083.5:c.*170G>T	ENSP00000395805.1:n.*170G>T
NM_000079.3:c.526G>T	NP_000070.1:p.Val176Leu
NM_001039523.2:c.601G>T	NP_001034612.1:p.Val201Leu
XM_017003256.1:c.622G>T	XP_016858745.1:p.Val208Leu
XM_017003257.1:c.547G>T	XP_016858746.1:p.Val183Leu
NM_000079.4:c.526G>T MANE Select	NP_000070.1:p.Val176Leu
NM_001039523.3:c.601G>T	NP_001034612.1:p.Val201Leu