Canonical Allele Identifier: CA10611916
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174747702C>A
GRCh37 chr2:g.175612430C>A
gnomAD v2:
2:175612430 C / A
gnomAD v3:
2:174747702 C / A
gnomAD v4:
chr2-174747702-C-A
Joint Max Group AF 0.00243628 (NFE)
Genomes Max Group AF 0.00263437 (NFE)
Exomes Max Group AF 0.00199067 (NFE)
ClinVar Allele:
283773
ClinVar RCV:
RCV000267328
RCV000320358
ClinVar Variation:
332429
dbSNP:
184095877
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174747702C>A , CM000664.2:g.174747702C>A GRCh38
NC_000002.11:g.175612430C>A , CM000664.1:g.175612430C>A GRCh37
NC_000002.10:g.175320676C>A NCBI36
NG_008172.1:g.21771G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000672640.1:c.*422G>T ENSP00000500507.1:n.*422G>T
ENST00000261007.9:c.*422G>T ENSP00000261007.5:n.*422G>T
ENST00000348749.9:c.*422G>T MANE Select ENSP00000261008.5:n.*422G>T
NM_000079.3:c.*422G>T NP_000070.1:n.*422G>T
NM_001039523.2:c.*422G>T NP_001034612.1:n.*422G>T
XM_017003256.1:c.*422G>T XP_016858745.1:n.*422G>T
XM_017003257.1:c.*422G>T XP_016858746.1:n.*422G>T
NM_000079.4:c.*422G>T MANE Select NP_000070.1:n.*422G>T
NM_001039523.3:c.*422G>T NP_001034612.1:n.*422G>T
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