Canonical Allele Identifier: CA430023026

Gene: CHRNA1

Linked Data

• dbSNP Id: rs186421442
• gnomAD v2: 2-175618962-G-C
• gnomAD v4: 2-174754234-G-C
• MyVariant Identifiers: chr2:g.175618962G>C (hg19) ; chr2:g.174754234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174754234G>C , CM000664.2:g.174754234G>C	GRCh38
NC_000002.11:g.175618962G>C , CM000664.1:g.175618962G>C	GRCh37
NC_000002.10:g.175327208G>C	NCBI36
NG_008172.1:g.15239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.36C>G	ENSP00000490338.2:p.Val12=
ENST00000672640.1:c.36C>G	ENSP00000500507.1:p.Val12=
ENST00000261007.9:c.600C>G	ENSP00000261007.5:p.Val200=
ENST00000348749.9:c.525C>G MANE Select	ENSP00000261008.5:p.Val175=
ENST00000409219.5:c.525C>G	ENSP00000386611.1:p.Val175=
ENST00000409323.1:c.525C>G	ENSP00000386684.1:p.Val175=
ENST00000409542.5:c.279C>G	ENSP00000387026.1:p.Val93=
ENST00000435083.5:c.*169C>G	ENSP00000395805.1:n.*169C>G
NM_000079.3:c.525C>G	NP_000070.1:p.Val175=
NM_001039523.2:c.600C>G	NP_001034612.1:p.Val200=
XM_017003256.1:c.621C>G	XP_016858745.1:p.Val207=
XM_017003257.1:c.546C>G	XP_016858746.1:p.Val182=
NM_000079.4:c.525C>G MANE Select	NP_000070.1:p.Val175=
NM_001039523.3:c.600C>G	NP_001034612.1:p.Val200=