Canonical Allele Identifier: CA5616982
Gene: CYP2C9 HGNC NCBI
dbSNP:
72558187
gnomAD v2:
10:96701715 T / C
gnomAD v3:
10:94941958 T / C
gnomAD v4:
chr10-94941958-T-C
Joint Max Group AF 0.00169073 (EAS)
Genomes Max Group AF 0.0019396 (EAS)
Exomes Max Group AF 0.00154503 (EAS)
MyVariant.info:
GRCh38 chr10:g.94941958T>C
GRCh37 chr10:g.96701715T>C
Revel Score:
ENST00000545448 0.139
ENST00000260682 (MANE Select) 0.139
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94941958T>C , CM000672.2:g.94941958T>C GRCh38
NC_000010.10:g.96701715T>C , CM000672.1:g.96701715T>C GRCh37
NC_000010.9:g.96691705T>C NCBI36
NG_008385.1:g.8301T>C
NG_008385.2:g.8801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.269T>C MANE Select ENSP00000260682.6:p.Leu90Pro
ENST00000643112.1:c.269T>C ENSP00000496202.1:p.Leu90Pro
ENST00000645207.1:n.422T>C
ENST00000260682.6:c.269T>C ENSP00000260682.6:p.Leu90Pro
ENST00000461906.1:n.294T>C
ENST00000473496.1:n.40T>C
NM_000771.3:c.269T>C NP_000762.2:p.Leu90Pro
NM_000771.4:c.269T>C MANE Select NP_000762.2:p.Leu90Pro
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