Canonical Allele Identifier: CA377672831
Gene: CYP2C9 HGNC NCBI
dbSNP:
72558187
gnomAD v3:
10:94941958 T / G
gnomAD v4:
chr10-94941958-T-G
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr10:g.94941958T>G
GRCh37 chr10:g.96701715T>G
Revel Score:
ENST00000545448 0.009
ENST00000260682 (MANE Select) 0.009
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.269T>G MANE Select ENSP00000260682.6:p.Leu90Arg
ENST00000643112.1:c.269T>G ENSP00000496202.1:p.Leu90Arg
ENST00000645207.1:n.422T>G
ENST00000260682.6:c.269T>G ENSP00000260682.6:p.Leu90Arg
ENST00000461906.1:n.294T>G
ENST00000473496.1:n.40T>G
NM_000771.3:c.269T>G NP_000762.2:p.Leu90Arg
NM_000771.4:c.269T>G MANE Select NP_000762.2:p.Leu90Arg
Search 100 bp 5'
Search 100 bp 3'