Canonical Allele Identifier: CA5617267
Gene: CYP2C9 HGNC NCBI

Linked Data

dbSNP Id: rs746035793
ExAC: 10:96740946 T / C
gnomAD v2: 10-96740946-T-C
gnomAD v4: 10-94981189-T-C
MyVariant Identifiers: chr10:g.96740946T>C (hg19) chr10:g.94981189T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94981189T>C , CM000672.2:g.94981189T>C GRCh38
NC_000010.10:g.96740946T>C , CM000672.1:g.96740946T>C GRCh37
NC_000010.9:g.96730936T>C NCBI36
NG_008385.1:g.47532T>C
NG_008385.2:g.48032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.968T>C MANE Select ENSP00000260682.6:p.Val323Ala
ENST00000643112.1:c.826T>C ENSP00000496202.1:p.Ser276Pro
ENST00000260682.6:c.968T>C ENSP00000260682.6:p.Val323Ala
NM_000771.3:c.968T>C NP_000762.2:p.Val323Ala
NM_000771.4:c.968T>C MANE Select NP_000762.2:p.Val323Ala
Search 100 bp 5'
Search 100 bp 3'