Canonical Allele Identifier: CA5617038
Gene: CYP2C9 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.94942234G>C
GRCh37 chr10:g.96701991G>C
Revel Score:
ENST00000545448 0.234
ENST00000260682 (MANE Select) 0.234
gnomAD v2:
10:96701991 G / C
gnomAD v4:
chr10-94942234-G-C
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
dbSNP:
72558189
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94942234G>C , CM000672.2:g.94942234G>C GRCh38
NC_000010.10:g.96701991G>C , CM000672.1:g.96701991G>C GRCh37
NC_000010.9:g.96691981G>C NCBI36
NG_008385.1:g.8577G>C
NG_008385.2:g.9077G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.374G>C MANE Select ENSP00000260682.6:p.Arg125Pro
ENST00000643112.1:c.374G>C ENSP00000496202.1:p.Arg125Pro
ENST00000645207.1:n.527G>C
ENST00000260682.6:c.374G>C ENSP00000260682.6:p.Arg125Pro
ENST00000461906.1:n.399G>C
ENST00000473496.1:n.145G>C
NM_000771.3:c.374G>C NP_000762.2:p.Arg125Pro
NM_000771.4:c.374G>C MANE Select NP_000762.2:p.Arg125Pro
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