Canonical Allele Identifier: CA349336381

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614768A>T (hg19) ; chr2:g.174750040A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750040A>T , CM000664.2:g.174750040A>T	GRCh38
NC_000002.11:g.175614768A>T , CM000664.1:g.175614768A>T	GRCh37
NC_000002.10:g.175323014A>T	NCBI36
NG_008172.1:g.19433T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.419T>A	ENSP00000490338.2:p.Val140Glu
ENST00000672640.1:c.419T>A	ENSP00000500507.1:p.Val140Glu
ENST00000261007.9:c.983T>A	ENSP00000261007.5:p.Val328Glu
ENST00000348749.9:c.908T>A MANE Select	ENSP00000261008.5:p.Val303Glu
ENST00000409219.5:c.908T>A	ENSP00000386611.1:p.Val303Glu
ENST00000409542.5:c.662T>A	ENSP00000387026.1:p.Val221Glu
ENST00000435083.5:c.*552T>A	ENSP00000395805.1:n.*552T>A
NM_000079.3:c.908T>A	NP_000070.1:p.Val303Glu
NM_001039523.2:c.983T>A	NP_001034612.1:p.Val328Glu
XM_017003256.1:c.1004T>A	XP_016858745.1:p.Val335Glu
XM_017003257.1:c.929T>A	XP_016858746.1:p.Val310Glu
NM_000079.4:c.908T>A MANE Select	NP_000070.1:p.Val303Glu
NM_001039523.3:c.983T>A	NP_001034612.1:p.Val328Glu