Canonical Allele Identifier: CA1974536
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174754233C>G
GRCh37 chr2:g.175618961C>G
Revel Score:
ENST00000348749 (MANE Select) 0.413
ENST00000261007 0.413
ENST00000409542 0.413
ENST00000409219 0.413
ENST00000409323 0.413
gnomAD v2:
2:175618961 C / G
gnomAD v4:
chr2-174754233-C-G
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174754233C>G , CM000664.2:g.174754233C>G GRCh38
NC_000002.11:g.175618961C>G , CM000664.1:g.175618961C>G GRCh37
NC_000002.10:g.175327207C>G NCBI36
NG_008172.1:g.15240G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.37G>C ENSP00000490338.2:p.Val13Leu
ENST00000672640.1:c.37G>C ENSP00000500507.1:p.Val13Leu
ENST00000261007.9:c.601G>C ENSP00000261007.5:p.Val201Leu
ENST00000348749.9:c.526G>C MANE Select ENSP00000261008.5:p.Val176Leu
ENST00000409219.5:c.526G>C ENSP00000386611.1:p.Val176Leu
ENST00000409323.1:c.526G>C ENSP00000386684.1:p.Val176Leu
ENST00000409542.5:c.280G>C ENSP00000387026.1:p.Val94Leu
ENST00000435083.5:c.*170G>C ENSP00000395805.1:n.*170G>C
NM_000079.3:c.526G>C NP_000070.1:p.Val176Leu
NM_001039523.2:c.601G>C NP_001034612.1:p.Val201Leu
XM_017003256.1:c.622G>C XP_016858745.1:p.Val208Leu
XM_017003257.1:c.547G>C XP_016858746.1:p.Val183Leu
NM_000079.4:c.526G>C MANE Select NP_000070.1:p.Val176Leu
NM_001039523.3:c.601G>C NP_001034612.1:p.Val201Leu
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