Canonical Allele Identifier: CA128076
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174750035C>T
GRCh37 chr2:g.175614763C>T
Revel Score:
ENST00000348749 (MANE Select) 0.788
ENST00000261007 0.788
ENST00000409542 0.788
ENST00000409219 0.788
gnomAD v2:
2:175614763 C / T
gnomAD v3:
2:174750035 C / T
gnomAD v4:
chr2-174750035-C-T
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000020050
ClinVar Variation:
18382
dbSNP:
137852804
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750035C>T , CM000664.2:g.174750035C>T GRCh38
NC_000002.11:g.175614763C>T , CM000664.1:g.175614763C>T GRCh37
NC_000002.10:g.175323009C>T NCBI36
NG_008172.1:g.19438G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.424G>A ENSP00000490338.2:p.Val142Ile
ENST00000672640.1:c.424G>A ENSP00000500507.1:p.Val142Ile
ENST00000261007.9:c.988G>A ENSP00000261007.5:p.Val330Ile
ENST00000348749.9:c.913G>A MANE Select ENSP00000261008.5:p.Val305Ile
ENST00000409219.5:c.913G>A ENSP00000386611.1:p.Val305Ile
ENST00000409542.5:c.667G>A ENSP00000387026.1:p.Val223Ile
ENST00000435083.5:c.*557G>A ENSP00000395805.1:n.*557G>A
NM_000079.3:c.913G>A NP_000070.1:p.Val305Ile
NM_001039523.2:c.988G>A NP_001034612.1:p.Val330Ile
XM_017003256.1:c.1009G>A XP_016858745.1:p.Val337Ile
XM_017003257.1:c.934G>A XP_016858746.1:p.Val312Ile
NM_000079.4:c.913G>A MANE Select NP_000070.1:p.Val305Ile
NM_001039523.3:c.988G>A NP_001034612.1:p.Val330Ile
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