Canonical Allele Identifier: CA5616422
Gene: CYP2C19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2472781
ClinVar RCV Id: RCV003208163
dbSNP Id: rs371309036
ExAC: 10:96535207 T / C
gnomAD v2: 10-96535207-T-C
gnomAD v3: 10-94775450-T-C
gnomAD v4: 10-94775450-T-C
MyVariant Identifiers: chr10:g.96535207T>C (hg19) chr10:g.94775450T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94775450T>C , CM000672.2:g.94775450T>C GRCh38
NC_000010.10:g.96535207T>C , CM000672.1:g.96535207T>C GRCh37
NC_000010.9:g.96525197T>C NCBI36
NG_008384.2:g.17745T>C
NG_008384.3:g.17770T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371321.9:c.392T>C MANE Select ENSP00000360372.3:p.Leu131Pro
ENST00000645461.1:n.1445T>C
ENST00000371321.7:c.392T>C ENSP00000360372.3:p.Leu131Pro
ENST00000464755.1:c.1155T>C ENSP00000483243.1:n.1155T>C
ENST00000480405.2:c.392T>C ENSP00000483847.1:p.Leu131Pro
NM_000769.2:c.392T>C NP_000760.1:p.Leu131Pro
NM_000769.4:c.392T>C MANE Select NP_000760.1:p.Leu131Pro
Search 100 bp 5'
Search 100 bp 3'