Canonical Allele Identifier: CA358950572

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1579977022
• MyVariant Identifiers: chr4:g.187130355T>C (hg19) ; chr4:g.186209201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209201T>C , CM000666.2:g.186209201T>C	GRCh38
NC_000004.11:g.187130355T>C , CM000666.1:g.187130355T>C	GRCh37
NC_000004.10:g.187367349T>C	NCBI36
NG_007965.1:g.22682T>C
NG_012095.2:g.5223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1334T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Phe445Ser
ENST00000378802.4:c.1334T>C (CYP4V2)	ENSP00000368079.4:p.Phe445Ser
ENST00000502665.1:n.569T>C (CYP4V2)
ENST00000507209.5:n.6032T>C (CYP4V2)
ENST00000511608.5:c.130T>C (KLKB1)
ENST00000513354.5:n.424T>C (CYP4V2)
NM_207352.3:c.1334T>C (CYP4V2)	NP_997235.3:p.Phe445Ser
XM_005262935.2:c.1331T>C (CYP4V2)	XP_005262992.1:p.Phe444Ser
XM_006714184.2:c.938T>C (CYP4V2)	XP_006714247.1:p.Phe313Ser
XM_005262935.4:c.1331T>C (CYP4V2)	XP_005262992.1:p.Phe444Ser
XM_017008037.1:c.938T>C (CYP4V2)	XP_016863526.1:p.Phe313Ser
NM_207352.4:c.1334T>C (CYP4V2) MANE Select	NP_997235.3:p.Phe445Ser