Canonical Allele Identifier: CA349340884

Gene: CHRNA1

Linked Data

• dbSNP Id: rs766763104
• MyVariant Identifiers: chr2:g.175618967A>G (hg19) ; chr2:g.174754239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754239A>G , CM000664.2:g.174754239A>G	GRCh38
NC_000002.11:g.175618967A>G , CM000664.1:g.175618967A>G	GRCh37
NC_000002.10:g.175327213A>G	NCBI36
NG_008172.1:g.15234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.31T>C	ENSP00000490338.2:p.Ser11Pro
ENST00000672640.1:c.31T>C	ENSP00000500507.1:p.Ser11Pro
ENST00000261007.9:c.595T>C	ENSP00000261007.5:p.Ser199Pro
ENST00000348749.9:c.520T>C MANE Select	ENSP00000261008.5:p.Ser174Pro
ENST00000409219.5:c.520T>C	ENSP00000386611.1:p.Ser174Pro
ENST00000409323.1:c.520T>C	ENSP00000386684.1:p.Ser174Pro
ENST00000409542.5:c.274T>C	ENSP00000387026.1:p.Ser92Pro
ENST00000435083.5:c.*164T>C	ENSP00000395805.1:n.*164T>C
NM_000079.3:c.520T>C	NP_000070.1:p.Ser174Pro
NM_001039523.2:c.595T>C	NP_001034612.1:p.Ser199Pro
XM_017003256.1:c.616T>C	XP_016858745.1:p.Ser206Pro
XM_017003257.1:c.541T>C	XP_016858746.1:p.Ser181Pro
NM_000079.4:c.520T>C MANE Select	NP_000070.1:p.Ser174Pro
NM_001039523.3:c.595T>C	NP_001034612.1:p.Ser199Pro