Canonical Allele Identifier: CA1974421

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 1119552
• ClinVar RCV Id: RCV001449020
• dbSNP Id: rs200535960
• ExAC: 2:175614734 G / A
• gnomAD v2: 2-175614734-G-A
• gnomAD v4: 2-174750006-G-A
• MyVariant Identifiers: chr2:g.175614734G>A (hg19) ; chr2:g.174750006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750006G>A , CM000664.2:g.174750006G>A	GRCh38
NC_000002.11:g.175614734G>A , CM000664.1:g.175614734G>A	GRCh37
NC_000002.10:g.175322980G>A	NCBI36
NG_008172.1:g.19467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.453C>T	ENSP00000490338.2:p.Ile151=
ENST00000672640.1:c.453C>T	ENSP00000500507.1:p.Ile151=
ENST00000261007.9:c.1017C>T	ENSP00000261007.5:p.Ile339=
ENST00000348749.9:c.942C>T MANE Select	ENSP00000261008.5:p.Ile314=
ENST00000409219.5:c.942C>T	ENSP00000386611.1:p.Ile314=
ENST00000409542.5:c.696C>T	ENSP00000387026.1:p.Ile232=
ENST00000435083.5:c.*586C>T	ENSP00000395805.1:n.*586C>T
NM_000079.3:c.942C>T	NP_000070.1:p.Ile314=
NM_001039523.2:c.1017C>T	NP_001034612.1:p.Ile339=
XM_017003256.1:c.1038C>T	XP_016858745.1:p.Ile346=
XM_017003257.1:c.963C>T	XP_016858746.1:p.Ile321=
NM_000079.4:c.942C>T MANE Select	NP_000070.1:p.Ile314=
NM_001039523.3:c.1017C>T	NP_001034612.1:p.Ile339=