Canonical Allele Identifier: CA349336377

Gene: CHRNA1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.419T>G	ENSP00000490338.2:p.Val140Gly
ENST00000672640.1:c.419T>G	ENSP00000500507.1:p.Val140Gly
ENST00000261007.9:c.983T>G	ENSP00000261007.5:p.Val328Gly
ENST00000348749.9:c.908T>G MANE Select	ENSP00000261008.5:p.Val303Gly
ENST00000409219.5:c.908T>G	ENSP00000386611.1:p.Val303Gly
ENST00000409542.5:c.662T>G	ENSP00000387026.1:p.Val221Gly
ENST00000435083.5:c.*552T>G	ENSP00000395805.1:n.*552T>G
NM_000079.3:c.908T>G	NP_000070.1:p.Val303Gly
NM_001039523.2:c.983T>G	NP_001034612.1:p.Val328Gly
XM_017003256.1:c.1004T>G	XP_016858745.1:p.Val335Gly
XM_017003257.1:c.929T>G	XP_016858746.1:p.Val310Gly
NM_000079.4:c.908T>G MANE Select	NP_000070.1:p.Val303Gly
NM_001039523.3:c.983T>G	NP_001034612.1:p.Val328Gly