Canonical Allele Identifier: CA1974440
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174750143C>G
GRCh38 chr2:g.174750143_174750145delinsGAG
GRCh37 chr2:g.175614871C>G
GRCh37 chr2:g.175614871_175614873delinsGAG
Revel Score:
ENST00000348749 (MANE Select) 0.851
ENST00000261007 0.851
ENST00000409542 0.851
ENST00000409219 0.851
gnomAD v2:
2:175614871 C / G
gnomAD v3:
2:174750143 C / G
gnomAD v4:
chr2-174750143-C-G
Joint Max Group AF 0.00062629 (AFR)
Genomes Max Group AF 0.00045467 (AFR)
Exomes Max Group AF 0.00069622 (AFR)
ClinVar RCV:
RCV001129171
RCV001129172
ClinVar Variation:
892724
dbSNP:
137852803
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.316G>C ENSP00000490338.2:p.Val106Leu
ENST00000672640.1:c.316G>C ENSP00000500507.1:p.Val106Leu
ENST00000261007.9:c.880G>C ENSP00000261007.5:p.Val294Leu
ENST00000348749.9:c.805G>C MANE Select ENSP00000261008.5:p.Val269Leu
ENST00000409219.5:c.805G>C ENSP00000386611.1:p.Val269Leu
ENST00000409542.5:c.559G>C ENSP00000387026.1:p.Val187Leu
ENST00000435083.5:c.*449G>C ENSP00000395805.1:n.*449G>C
NM_000079.3:c.805G>C NP_000070.1:p.Val269Leu
NM_001039523.2:c.880G>C NP_001034612.1:p.Val294Leu
XM_017003256.1:c.901G>C XP_016858745.1:p.Val301Leu
XM_017003257.1:c.826G>C XP_016858746.1:p.Val276Leu
NM_000079.4:c.805G>C MANE Select NP_000070.1:p.Val269Leu
NM_001039523.3:c.880G>C NP_001034612.1:p.Val294Leu
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