Canonical Allele Identifier: CA5616874
Gene: CYP2C19 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.94852914A>C
GRCh37 chr10:g.96612671A>C
gnomAD v2:
10:96612671 A / C
gnomAD v3:
10:94852914 A / C
gnomAD v4:
chr10-94852914-A-C
Joint Max Group AF 0.00104982 (AFR)
Genomes Max Group AF 0.00102482 (AFR)
Exomes Max Group AF 0.00090217 (AFR)
dbSNP:
55640102
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94852914A>C , CM000672.2:g.94852914A>C GRCh38
NC_000010.10:g.96612671A>C , CM000672.1:g.96612671A>C GRCh37
NC_000010.9:g.96602661A>C NCBI36
NG_008384.2:g.95209A>C
NG_008384.3:g.95234A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.1473A>C MANE Select ENSP00000360372.3:p.Ter491Cys
ENST00000645461.1:n.2384A>C
ENST00000371321.7:c.1473A>C ENSP00000360372.3:p.Ter491Cys
ENST00000464755.1:c.2236A>C ENSP00000483243.1:n.2236A>C
NM_000769.2:c.1473A>C NP_000760.1:p.Ter491Cys
NM_000769.4:c.1473A>C MANE Select NP_000760.1:p.Ter491Cys
Search 100 bp 5'
Search 100 bp 3'