Canonical Allele Identifier: CA430021908

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 2875313
• ClinVar RCV Id: RCV003633219
• dbSNP Id: rs1185365082
• gnomAD v2: 2-175614674-C-T
• gnomAD v4: 2-174749946-C-T
• MyVariant Identifiers: chr2:g.175614674C>T (hg19) ; chr2:g.174749946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174749946C>T , CM000664.2:g.174749946C>T	GRCh38
NC_000002.11:g.175614674C>T , CM000664.1:g.175614674C>T	GRCh37
NC_000002.10:g.175322920C>T	NCBI36
NG_008172.1:g.19527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.513G>A	ENSP00000490338.2:p.Lys171=
ENST00000672640.1:c.513G>A	ENSP00000500507.1:p.Lys171=
ENST00000261007.9:c.1077G>A	ENSP00000261007.5:p.Lys359=
ENST00000348749.9:c.1002G>A MANE Select	ENSP00000261008.5:p.Lys334=
ENST00000409219.5:c.1002G>A	ENSP00000386611.1:p.Lys334=
ENST00000409542.5:c.756G>A	ENSP00000387026.1:p.Lys252=
ENST00000435083.5:c.*646G>A	ENSP00000395805.1:n.*646G>A
NM_000079.3:c.1002G>A	NP_000070.1:p.Lys334=
NM_001039523.2:c.1077G>A	NP_001034612.1:p.Lys359=
XM_017003256.1:c.1098G>A	XP_016858745.1:p.Lys366=
XM_017003257.1:c.1023G>A	XP_016858746.1:p.Lys341=
NM_000079.4:c.1002G>A MANE Select	NP_000070.1:p.Lys334=
NM_001039523.3:c.1077G>A	NP_001034612.1:p.Lys359=