Canonical Allele Identifier: CA377677248

Gene: CYP2C8

Linked Data

• dbSNP Id: rs1317402551
• gnomAD v3: 10-95037138-A-T
• gnomAD v4: 10-95037138-A-T
• MyVariant Identifiers: chr10:g.96796895A>T (hg19) ; chr10:g.95037138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037138A>T , CM000672.2:g.95037138A>T	GRCh38
NC_000010.10:g.96796895A>T , CM000672.1:g.96796895A>T	GRCh37
NC_000010.9:g.96786885A>T	NCBI36
NG_007972.1:g.37360T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1463T>A MANE Select	ENSP00000360317.3:p.Ile488Asn
ENST00000371270.5:c.1463T>A	ENSP00000360317.3:p.Ile488Asn
ENST00000490994.6:c.*1249T>A	ENSP00000433314.1:n.*1249T>A
ENST00000525991.5:c.*1038T>A	ENSP00000433842.1:n.*1038T>A
ENST00000526814.5:n.1718T>A
ENST00000527420.5:c.*320T>A	ENSP00000433191.1:n.*320T>A
ENST00000527953.5:n.1757T>A
ENST00000533320.5:n.1697T>A
ENST00000535898.5:c.1157T>A	ENSP00000445062.1:p.Ile386Asn
ENST00000539050.5:c.1253T>A	ENSP00000442343.2:p.Ile418Asn
ENST00000623108.3:c.1253T>A	ENSP00000485110.1:p.Ile418Asn
NM_000770.3:c.1463T>A MANE Select	NP_000761.3:p.Ile488Asn
NM_001198853.1:c.1253T>A	NP_001185782.1:p.Ile418Asn
NM_001198854.1:c.1157T>A	NP_001185783.1:p.Ile386Asn
NM_001198855.1:c.1253T>A	NP_001185784.1:p.Ile418Asn