Canonical Allele Identifier: CA9755678
Gene: CHGB HGNC NCBI
COSMIC:
COSM3758670 (not active)
MyVariant.info:
GRCh38 chr20:g.5923382C>T
GRCh37 chr20:g.5904028C>T
Revel Score:
ENST00000378961 (MANE Select) 0.010
gnomAD v2:
20:5904028 C / T
gnomAD v3:
20:5923382 C / T
gnomAD v4:
chr20-5923382-C-T
Joint Max Group AF 0.24341322 (AFR)
Genomes Max Group AF 0.24081342 (AFR)
Exomes Max Group AF 0.24752113 (AMR)
dbSNP:
742710
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5923382C>T , CM000682.2:g.5923382C>T GRCh38
NC_000020.10:g.5904028C>T , CM000682.1:g.5904028C>T GRCh37
NC_000020.9:g.5852028C>T NCBI36
NG_042285.1:g.17055C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378961.9:c.1238C>T MANE Select ENSP00000368244.4:p.Pro413Leu
ENST00000378961.8:c.1238C>T ENSP00000368244.4:p.Pro413Leu
NM_001819.2:c.1238C>T NP_001810.2:p.Pro413Leu
NM_001819.3:c.1238C>T MANE Select NP_001810.2:p.Pro413Leu
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