Canonical Allele Identifier: CA1974442
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174750143C>T
GRCh38 chr2:g.174750143_174750145delinsTAG
GRCh37 chr2:g.175614871C>T
GRCh37 chr2:g.175614871_175614873delinsTAG
Revel Score:
ENST00000348749 (MANE Select) 0.538
ENST00000261007 0.538
ENST00000409542 0.538
ENST00000409219 0.538
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750143C>T , CM000664.2:g.174750143C>T GRCh38
NC_000002.11:g.175614871C>T , CM000664.1:g.175614871C>T GRCh37
NC_000002.10:g.175323117C>T NCBI36
NG_008172.1:g.19330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.316G>A ENSP00000490338.2:p.Val106Ile
ENST00000672640.1:c.316G>A ENSP00000500507.1:p.Val106Ile
ENST00000261007.9:c.880G>A ENSP00000261007.5:p.Val294Ile
ENST00000348749.9:c.805G>A MANE Select ENSP00000261008.5:p.Val269Ile
ENST00000409219.5:c.805G>A ENSP00000386611.1:p.Val269Ile
ENST00000409542.5:c.559G>A ENSP00000387026.1:p.Val187Ile
ENST00000435083.5:c.*449G>A ENSP00000395805.1:n.*449G>A
NM_000079.3:c.805G>A NP_000070.1:p.Val269Ile
NM_001039523.2:c.880G>A NP_001034612.1:p.Val294Ile
XM_017003256.1:c.901G>A XP_016858745.1:p.Val301Ile
XM_017003257.1:c.826G>A XP_016858746.1:p.Val276Ile
NM_000079.4:c.805G>A MANE Select NP_000070.1:p.Val269Ile
NM_001039523.3:c.880G>A NP_001034612.1:p.Val294Ile
Search 100 bp 5'
Search 100 bp 3'