Canonical Allele Identifier: CA470841139

Gene: CYP2C8

Linked Data

• dbSNP Id: rs1417687107
• gnomAD v2: 10-96796897-G-A
• COSMIC: COSM5594475 ; COSM5594476
• MyVariant Identifiers: chr10:g.96796897G>A (hg19) ; chr10:g.95037140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037140G>A , CM000672.2:g.95037140G>A	GRCh38
NC_000010.10:g.96796897G>A , CM000672.1:g.96796897G>A	GRCh37
NC_000010.9:g.96786887G>A	NCBI36
NG_007972.1:g.37358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1461C>T MANE Select	ENSP00000360317.3:p.Phe487=
ENST00000371270.5:c.1461C>T	ENSP00000360317.3:p.Phe487=
ENST00000490994.6:c.*1247C>T	ENSP00000433314.1:n.*1247C>T
ENST00000525991.5:c.*1036C>T	ENSP00000433842.1:n.*1036C>T
ENST00000526814.5:n.1716C>T
ENST00000527420.5:c.*318C>T	ENSP00000433191.1:n.*318C>T
ENST00000527953.5:n.1755C>T
ENST00000533320.5:n.1695C>T
ENST00000535898.5:c.1155C>T	ENSP00000445062.1:p.Phe385=
ENST00000539050.5:c.1251C>T	ENSP00000442343.2:p.Phe417=
ENST00000623108.3:c.1251C>T	ENSP00000485110.1:p.Phe417=
NM_000770.3:c.1461C>T MANE Select	NP_000761.3:p.Phe487=
NM_001198853.1:c.1251C>T	NP_001185782.1:p.Phe417=
NM_001198854.1:c.1155C>T	NP_001185783.1:p.Phe385=
NM_001198855.1:c.1251C>T	NP_001185784.1:p.Phe417=