Canonical Allele Identifier: CA211711329
Gene: CYP2C8 HGNC NCBI

Linked Data

dbSNP Id: rs1051582714

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037149C>G , CM000672.2:g.95037149C>G GRCh38
NC_000010.10:g.96796906C>G , CM000672.1:g.96796906C>G GRCh37
NC_000010.9:g.96786896C>G NCBI36
NG_007972.1:g.37349G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1452G>C MANE Select ENSP00000360317.3:p.Gln484His
ENST00000371270.5:c.1452G>C ENSP00000360317.3:p.Gln484His
ENST00000490994.6:c.*1238G>C ENSP00000433314.1:n.*1238G>C
ENST00000525991.5:c.*1027G>C ENSP00000433842.1:n.*1027G>C
ENST00000526814.5:n.1707G>C
ENST00000527420.5:c.*309G>C ENSP00000433191.1:n.*309G>C
ENST00000527953.5:n.1746G>C
ENST00000533320.5:n.1686G>C
ENST00000535898.5:c.1146G>C ENSP00000445062.1:p.Gln382His
ENST00000539050.5:c.1242G>C ENSP00000442343.2:p.Gln414His
ENST00000623108.3:c.1242G>C ENSP00000485110.1:p.Gln414His
NM_000770.3:c.1452G>C MANE Select NP_000761.3:p.Gln484His
NM_001198853.1:c.1242G>C NP_001185782.1:p.Gln414His
NM_001198854.1:c.1146G>C NP_001185783.1:p.Gln382His
NM_001198855.1:c.1242G>C NP_001185784.1:p.Gln414His