Canonical Allele Identifier: CA128078
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174753524A>C
GRCh37 chr2:g.175618252A>C
Revel Score:
ENST00000348749 (MANE Select) 0.971
ENST00000261007 0.971
ENST00000409542 0.971
ENST00000409219 0.971
ENST00000409323 0.971
gnomAD v2:
2:175618252 A / C
gnomAD v4:
chr2-174753524-A-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000020051
RCV003517130
ClinVar Variation:
18383
dbSNP:
137852805
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174753524A>C , CM000664.2:g.174753524A>C GRCh38
NC_000002.11:g.175618252A>C , CM000664.1:g.175618252A>C GRCh37
NC_000002.10:g.175326498A>C NCBI36
NG_008172.1:g.15949T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.268T>G ENSP00000490338.2:p.Phe90Val
ENST00000672640.1:c.268T>G ENSP00000500507.1:p.Phe90Val
ENST00000261007.9:c.832T>G ENSP00000261007.5:p.Phe278Val
ENST00000348749.9:c.757T>G MANE Select ENSP00000261008.5:p.Phe253Val
ENST00000409219.5:c.757T>G ENSP00000386611.1:p.Phe253Val
ENST00000409323.1:c.757T>G ENSP00000386684.1:p.Phe253Val
ENST00000409542.5:c.511T>G ENSP00000387026.1:p.Phe171Val
ENST00000435083.5:c.*401T>G ENSP00000395805.1:n.*401T>G
NM_000079.3:c.757T>G NP_000070.1:p.Phe253Val
NM_001039523.2:c.832T>G NP_001034612.1:p.Phe278Val
XM_017003256.1:c.853T>G XP_016858745.1:p.Phe285Val
XM_017003257.1:c.778T>G XP_016858746.1:p.Phe260Val
NM_000079.4:c.757T>G MANE Select NP_000070.1:p.Phe253Val
NM_001039523.3:c.832T>G NP_001034612.1:p.Phe278Val
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