Canonical Allele Identifier: CA5617062

Gene: CYP2C9

Linked Data

• ClinVar Variation Id: 226024
• ClinVar RCV Id: RCV000787933 ; RCV000788097 ; RCV000788103 ; RCV001522200
• dbSNP Id: rs7900194
• ExAC: 10:96702066 G / A
• gnomAD v2: 10-96702066-G-A
• gnomAD v3: 10-94942309-G-A
• gnomAD v4: 10-94942309-G-A
• MyVariant Identifiers: chr10:g.96702066G>A (hg19) ; chr10:g.94942309G>A (hg38)
• PubMed: PMID:19663669 ; PMID:20072124 ; PMID:21228733 ; PMID:21635147 ; PMID:22378156 ; PMID:22676192 ; PMID:22992668 ; PMID:23376925 ; PMID:26745506

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94942309G>A , CM000672.2:g.94942309G>A	GRCh38
NC_000010.10:g.96702066G>A , CM000672.1:g.96702066G>A	GRCh37
NC_000010.9:g.96692056G>A	NCBI36
NG_008385.1:g.8652G>A
NG_008385.2:g.9152G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260682.8:c.449G>A MANE Select	ENSP00000260682.6:p.Arg150His
ENST00000643112.1:c.449G>A	ENSP00000496202.1:p.Arg150His
ENST00000645207.1:n.602G>A
ENST00000260682.6:c.449G>A	ENSP00000260682.6:p.Arg150His
ENST00000461906.1:n.474G>A
ENST00000473496.1:n.220G>A
NM_000771.3:c.449G>A	NP_000762.2:p.Arg150His
NM_000771.4:c.449G>A MANE Select	NP_000762.2:p.Arg150His