Canonical Allele Identifier: CA10611918
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174747713C>T
GRCh37 chr2:g.175612441C>T
gnomAD v2:
2:175612441 C / T
gnomAD v3:
2:174747713 C / T
gnomAD v4:
chr2-174747713-C-T
Joint Max Group AF 0.00939544 (SAS)
Genomes Max Group AF 0.00626464 (SAS)
Exomes Max Group AF 0.00983573 (SAS)
ClinVar RCV:
RCV000319128
RCV000371665
ClinVar Variation:
332431
dbSNP:
560280191
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174747713C>T , CM000664.2:g.174747713C>T GRCh38
NC_000002.11:g.175612441C>T , CM000664.1:g.175612441C>T GRCh37
NC_000002.10:g.175320687C>T NCBI36
NG_008172.1:g.21760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672640.1:c.*411G>A ENSP00000500507.1:n.*411G>A
ENST00000261007.9:c.*411G>A ENSP00000261007.5:n.*411G>A
ENST00000348749.9:c.*411G>A MANE Select ENSP00000261008.5:n.*411G>A
NM_000079.3:c.*411G>A NP_000070.1:n.*411G>A
NM_001039523.2:c.*411G>A NP_001034612.1:n.*411G>A
XM_017003256.1:c.*411G>A XP_016858745.1:n.*411G>A
XM_017003257.1:c.*411G>A XP_016858746.1:n.*411G>A
NM_000079.4:c.*411G>A MANE Select NP_000070.1:n.*411G>A
NM_001039523.3:c.*411G>A NP_001034612.1:n.*411G>A
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