Canonical Allele Identifier: CA5616778
Gene: CYP2C19 HGNC NCBI

Linked Data

dbSNP Id: rs765112687
ExAC: 10:96609715 CA / C
gnomAD v2: 10-96609715-CA-C
gnomAD v4: 10-94849958-CA-C
MyVariant Identifiers: chr10:g.96609716del (hg19) chr10:g.94849960del (hg38) chr10:g.94849959del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94849960del , CM000672.2:g.94849960del GRCh38
NC_000010.10:g.96609717del , CM000672.1:g.96609717del GRCh37
NC_000010.9:g.96599707del NCBI36
NG_008384.2:g.92255del
NG_008384.3:g.92280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.1193del MANE Select ENSP00000360372.3:p.Asn398ThrfsTer?
ENST00000645461.1:n.2104del
ENST00000371321.7:c.1193del ENSP00000360372.3:p.Asn398ThrfsTer?
ENST00000464755.1:c.1956del ENSP00000483243.1:n.1956del
NM_000769.2:c.1193del NP_000760.1:p.Asn398ThrfsTer?
NM_000769.4:c.1193del MANE Select NP_000760.1:p.Asn398ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'