Canonical Allele Identifier: CA1974662
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174759341C>T
GRCh37 chr2:g.175624069C>T
Revel Score:
ENST00000348749 (MANE Select) 0.627
ENST00000261007 0.627
ENST00000409542 0.627
ENST00000409219 0.627
ENST00000409323 0.627
gnomAD v2:
2:175624069 C / T
gnomAD v3:
2:174759341 C / T
gnomAD v4:
chr2-174759341-C-T
Joint Max Group AF 0.00092071 (NFE)
Genomes Max Group AF 0.0009416 (NFE)
Exomes Max Group AF 0.0009087 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174759341C>T , CM000664.2:g.174759341C>T GRCh38
NC_000002.11:g.175624069C>T , CM000664.1:g.175624069C>T GRCh37
NC_000002.10:g.175332315C>T NCBI36
NG_008172.1:g.10132G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.-266G>A ENSP00000490338.2:n.-266G>A
ENST00000672640.1:c.-266G>A ENSP00000500507.1:n.-266G>A
ENST00000261007.9:c.224G>A ENSP00000261007.5:p.Arg75His
ENST00000348749.9:c.224G>A MANE Select ENSP00000261008.5:p.Arg75His
ENST00000409219.5:c.224G>A ENSP00000386611.1:p.Arg75His
ENST00000409323.1:c.224G>A ENSP00000386684.1:p.Arg75His
ENST00000409542.5:c.224G>A ENSP00000387026.1:p.Arg75His
ENST00000435083.5:c.224G>A ENSP00000395805.1:p.Arg75His
NM_000079.3:c.224G>A NP_000070.1:p.Arg75His
NM_001039523.2:c.224G>A NP_001034612.1:p.Arg75His
XM_017003256.1:c.245G>A XP_016858745.1:p.Arg82His
XM_017003257.1:c.245G>A XP_016858746.1:p.Arg82His
NM_000079.4:c.224G>A MANE Select NP_000070.1:p.Arg75His
NM_001039523.3:c.224G>A NP_001034612.1:p.Arg75His
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