Canonical Allele Identifier: CA5617301

Gene: CYP2C9

Linked Data

• ClinVar Variation Id: 225984
• ClinVar RCV Id: RCV000308849 ; RCV000787931 ; RCV000788095 ; RCV000788101
• dbSNP Id: rs28371686
• ExAC: 10:96741058 C / G
• gnomAD v2: 10-96741058-C-G
• gnomAD v3: 10-94981301-C-G
• gnomAD v4: 10-94981301-C-G
• MyVariant Identifiers: chr10:g.96741058C>G (hg19) ; chr10:g.94981301C>G (hg38)
• PubMed: PMID:19387626 ; PMID:19802360 ; PMID:20072124 ; PMID:21228733 ; PMID:22992668

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94981301C>G , CM000672.2:g.94981301C>G	GRCh38
NC_000010.10:g.96741058C>G , CM000672.1:g.96741058C>G	GRCh37
NC_000010.9:g.96731048C>G	NCBI36
NG_008385.1:g.47644C>G
NG_008385.2:g.48144C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260682.8:c.1080C>G MANE Select	ENSP00000260682.6:p.Asp360Glu
ENST00000643112.1:c.*89C>G	ENSP00000496202.1:n.*89C>G
ENST00000260682.6:c.1080C>G	ENSP00000260682.6:p.Asp360Glu
NM_000771.3:c.1080C>G	NP_000762.2:p.Asp360Glu
NM_000771.4:c.1080C>G MANE Select	NP_000762.2:p.Asp360Glu