Canonical Allele Identifier: CA349336358

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614765A>C (hg19) ; chr2:g.174750037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750037A>C , CM000664.2:g.174750037A>C	GRCh38
NC_000002.11:g.175614765A>C , CM000664.1:g.175614765A>C	GRCh37
NC_000002.10:g.175323011A>C	NCBI36
NG_008172.1:g.19436T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.422T>G	ENSP00000490338.2:p.Phe141Cys
ENST00000672640.1:c.422T>G	ENSP00000500507.1:p.Phe141Cys
ENST00000261007.9:c.986T>G	ENSP00000261007.5:p.Phe329Cys
ENST00000348749.9:c.911T>G MANE Select	ENSP00000261008.5:p.Phe304Cys
ENST00000409219.5:c.911T>G	ENSP00000386611.1:p.Phe304Cys
ENST00000409542.5:c.665T>G	ENSP00000387026.1:p.Phe222Cys
ENST00000435083.5:c.*555T>G	ENSP00000395805.1:n.*555T>G
NM_000079.3:c.911T>G	NP_000070.1:p.Phe304Cys
NM_001039523.2:c.986T>G	NP_001034612.1:p.Phe329Cys
XM_017003256.1:c.1007T>G	XP_016858745.1:p.Phe336Cys
XM_017003257.1:c.932T>G	XP_016858746.1:p.Phe311Cys
NM_000079.4:c.911T>G MANE Select	NP_000070.1:p.Phe304Cys
NM_001039523.3:c.986T>G	NP_001034612.1:p.Phe329Cys