Canonical Allele Identifier: CA210351
Gene: CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232541451C>G
GRCh37 chr2:g.233406161C>G
Revel Score:
ENST00000389494 0.950
ENST00000541596 0.950
gnomAD v2:
2:233406161 C / G
gnomAD v3:
2:232541451 C / G
gnomAD v4:
chr2-232541451-C-G
Joint Max Group AF 0.00029468 (EAS)
Exomes Max Group AF 0.00031262 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232541451C>G , CM000664.2:g.232541451C>G GRCh38
NC_000002.11:g.233406161C>G , CM000664.1:g.233406161C>G GRCh37
NC_000002.10:g.233114405C>G NCBI36
NG_012954.1:g.6725C>G
NG_012954.2:g.6760C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651502.1:c.428C>G MANE Select ENSP00000498757.1:p.Pro143Arg
ENST00000389492.3:c.350+740C>G ENSP00000374143.3:n.350+740C>G
ENST00000389494.7:c.428C>G ENSP00000374145.3:p.Pro143Arg
ENST00000485094.1:n.449C>G
NM_005199.4:c.428C>G NP_005190.4:p.Pro143Arg
NM_005199.5:c.428C>G MANE Select NP_005190.4:p.Pro143Arg
Search 100 bp 5'
Search 100 bp 3'