Canonical Allele Identifier: CA5617464

Gene: CYP2C8

Linked Data

• dbSNP Id: rs758345299
• ExAC: 10:96796928 A / G
• gnomAD v2: 10-96796928-A-G
• gnomAD v4: 10-95037171-A-G
• MyVariant Identifiers: chr10:g.96796928A>G (hg19) ; chr10:g.95037171A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037171A>G , CM000672.2:g.95037171A>G	GRCh38
NC_000010.10:g.96796928A>G , CM000672.1:g.96796928A>G	GRCh37
NC_000010.9:g.96786918A>G	NCBI36
NG_007972.1:g.37327T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1430T>C MANE Select	ENSP00000360317.3:p.Val477Ala
ENST00000371270.5:c.1430T>C	ENSP00000360317.3:p.Val477Ala
ENST00000490994.6:c.*1216T>C	ENSP00000433314.1:n.*1216T>C
ENST00000525991.5:c.*1005T>C	ENSP00000433842.1:n.*1005T>C
ENST00000526814.5:n.1685T>C
ENST00000527420.5:c.*287T>C	ENSP00000433191.1:n.*287T>C
ENST00000527953.5:n.1724T>C
ENST00000533320.5:n.1664T>C
ENST00000535898.5:c.1124T>C	ENSP00000445062.1:p.Val375Ala
ENST00000539050.5:c.1220T>C	ENSP00000442343.2:p.Val407Ala
ENST00000623108.3:c.1220T>C	ENSP00000485110.1:p.Val407Ala
NM_000770.3:c.1430T>C MANE Select	NP_000761.3:p.Val477Ala
NM_001198853.1:c.1220T>C	NP_001185782.1:p.Val407Ala
NM_001198854.1:c.1124T>C	NP_001185783.1:p.Val375Ala
NM_001198855.1:c.1220T>C	NP_001185784.1:p.Val407Ala