Canonical Allele Identifier: CA15670677
Gene: CYP2C19 HGNC NCBI
MTND4P19 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.94774506C>T
GRCh37 chr10:g.96534263C>T
gnomAD v2:
10:96534263 C / T
gnomAD v3:
10:94774506 C / T
gnomAD v4:
chr10-94774506-C-T
Joint Max Group AF 0.31204929 (SAS)
Genomes Max Group AF 0.3164079 (SAS)
Exomes Max Group AF 0.2445961 (SAS)
dbSNP:
6583954
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94774506C>T , CM000672.2:g.94774506C>T GRCh38
NC_000010.10:g.96534263C>T , CM000672.1:g.96534263C>T GRCh37
NC_000010.9:g.96524253C>T NCBI36
NG_008384.2:g.16801C>T
NG_008384.3:g.16826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.169-552C>T (CYP2C19) MANE Select ENSP00000360372.3:n.169-552C>T
ENST00000645461.1:n.670C>T (CYP2C19)
ENST00000371321.7:c.169-552C>T (CYP2C19) ENSP00000360372.3:n.169-552C>T
ENST00000446659.1:n.128G>A (MTND4P19)
ENST00000464755.1:c.932-552C>T ENSP00000483243.1:n.932-552C>T
ENST00000480405.2:c.169-552C>T (CYP2C19) ENSP00000483847.1:n.169-552C>T
NM_000769.2:c.169-552C>T (CYP2C19) NP_000760.1:n.169-552C>T
NM_000769.4:c.169-552C>T (CYP2C19) MANE Select NP_000760.1:n.169-552C>T
Search 100 bp 5'
Search 100 bp 3'