Canonical Allele Identifier: CA349336177

Gene: CHRNA1

Linked Data

• gnomAD v4: 2-174749995-G-T
• MyVariant Identifiers: chr2:g.175614723G>T (hg19) ; chr2:g.174749995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174749995G>T , CM000664.2:g.174749995G>T	GRCh38
NC_000002.11:g.175614723G>T , CM000664.1:g.175614723G>T	GRCh37
NC_000002.10:g.175322969G>T	NCBI36
NG_008172.1:g.19478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.464C>A	ENSP00000490338.2:p.Thr155Lys
ENST00000672640.1:c.464C>A	ENSP00000500507.1:p.Thr155Lys
ENST00000261007.9:c.1028C>A	ENSP00000261007.5:p.Thr343Lys
ENST00000348749.9:c.953C>A MANE Select	ENSP00000261008.5:p.Thr318Lys
ENST00000409219.5:c.953C>A	ENSP00000386611.1:p.Thr318Lys
ENST00000409542.5:c.707C>A	ENSP00000387026.1:p.Thr236Lys
ENST00000435083.5:c.*597C>A	ENSP00000395805.1:n.*597C>A
NM_000079.3:c.953C>A	NP_000070.1:p.Thr318Lys
NM_001039523.2:c.1028C>A	NP_001034612.1:p.Thr343Lys
XM_017003256.1:c.1049C>A	XP_016858745.1:p.Thr350Lys
XM_017003257.1:c.974C>A	XP_016858746.1:p.Thr325Lys
NM_000079.4:c.953C>A MANE Select	NP_000070.1:p.Thr318Lys
NM_001039523.3:c.1028C>A	NP_001034612.1:p.Thr343Lys