Canonical Allele Identifier: CA358950660

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1355446
• ClinVar RCV Id: RCV001866924
• dbSNP Id: rs1270828621
• MyVariant Identifiers: chr4:g.187130397C>A (hg19) ; chr4:g.186209243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209243C>A , CM000666.2:g.186209243C>A	GRCh38
NC_000004.11:g.187130397C>A , CM000666.1:g.187130397C>A	GRCh37
NC_000004.10:g.187367391C>A	NCBI36
NG_007965.1:g.22724C>A
NG_012095.2:g.5265C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1376C>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Pro459His
ENST00000378802.4:c.1376C>A (CYP4V2)	ENSP00000368079.4:p.Pro459His
ENST00000502665.1:n.611C>A (CYP4V2)
ENST00000507209.5:n.6074C>A (CYP4V2)
ENST00000511608.5:c.172C>A (KLKB1)
ENST00000513354.5:n.466C>A (CYP4V2)
NM_207352.3:c.1376C>A (CYP4V2)	NP_997235.3:p.Pro459His
XM_005262935.2:c.1373C>A (CYP4V2)	XP_005262992.1:p.Pro458His
XM_006714184.2:c.980C>A (CYP4V2)	XP_006714247.1:p.Pro327His
XM_005262935.4:c.1373C>A (CYP4V2)	XP_005262992.1:p.Pro458His
XM_017008037.1:c.980C>A (CYP4V2)	XP_016863526.1:p.Pro327His
NM_207352.4:c.1376C>A (CYP4V2) MANE Select	NP_997235.3:p.Pro459His