Canonical Allele Identifier: CA1974426

Gene: CHRNA1

Linked Data

• ClinVar Variation Id: 466185
• ClinVar RCV Id: RCV001136151
• dbSNP Id: rs373005571
• ExAC: 2:175614764 G / A
• gnomAD v2: 2-175614764-G-A
• gnomAD v3: 2-174750036-G-A
• gnomAD v4: 2-174750036-G-A
• MyVariant Identifiers: chr2:g.175614764G>A (hg19) ; chr2:g.174750036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750036G>A , CM000664.2:g.174750036G>A	GRCh38
NC_000002.11:g.175614764G>A , CM000664.1:g.175614764G>A	GRCh37
NC_000002.10:g.175323010G>A	NCBI36
NG_008172.1:g.19437C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.423C>T	ENSP00000490338.2:p.Phe141=
ENST00000672640.1:c.423C>T	ENSP00000500507.1:p.Phe141=
ENST00000261007.9:c.987C>T	ENSP00000261007.5:p.Phe329=
ENST00000348749.9:c.912C>T MANE Select	ENSP00000261008.5:p.Phe304=
ENST00000409219.5:c.912C>T	ENSP00000386611.1:p.Phe304=
ENST00000409542.5:c.666C>T	ENSP00000387026.1:p.Phe222=
ENST00000435083.5:c.*556C>T	ENSP00000395805.1:n.*556C>T
NM_000079.3:c.912C>T	NP_000070.1:p.Phe304=
NM_001039523.2:c.987C>T	NP_001034612.1:p.Phe329=
XM_017003256.1:c.1008C>T	XP_016858745.1:p.Phe336=
XM_017003257.1:c.933C>T	XP_016858746.1:p.Phe311=
NM_000079.4:c.912C>T MANE Select	NP_000070.1:p.Phe304=
NM_001039523.3:c.987C>T	NP_001034612.1:p.Phe329=