Canonical Allele Identifier: CA13249482
Gene: CYP2C19 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.94849811T>C
GRCh37 chr10:g.96609568T>C
gnomAD v2:
10:96609568 T / C
gnomAD v3:
10:94849811 T / C
gnomAD v4:
chr10-94849811-T-C
Joint Max Group AF 0.6651743 (AMR)
Genomes Max Group AF 0.59051612 (AMR)
Exomes Max Group AF 0.68859022 (AMR)
dbSNP:
4917623
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94849811T>C , CM000672.2:g.94849811T>C GRCh38
NC_000010.10:g.96609568T>C , CM000672.1:g.96609568T>C GRCh37
NC_000010.9:g.96599558T>C NCBI36
NG_008384.2:g.92106T>C
NG_008384.3:g.92131T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.1150-106T>C MANE Select ENSP00000360372.3:n.1150-106T>C
ENST00000645461.1:n.2061-106T>C
ENST00000371321.7:c.1150-106T>C ENSP00000360372.3:n.1150-106T>C
ENST00000464755.1:c.1913-106T>C ENSP00000483243.1:n.1913-106T>C
NM_000769.2:c.1150-106T>C NP_000760.1:n.1150-106T>C
NM_000769.4:c.1150-106T>C MANE Select NP_000760.1:n.1150-106T>C
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