Canonical Allele Identifier: CA358950826

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131666C>A (hg19) ; chr4:g.186210512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210512C>A , CM000666.2:g.186210512C>A	GRCh38
NC_000004.11:g.187131666C>A , CM000666.1:g.187131666C>A	GRCh37
NC_000004.10:g.187368660C>A	NCBI36
NG_007965.1:g.23993C>A
NG_012095.2:g.6534C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1449C>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Cys483Ter
ENST00000378802.4:c.1449C>A (CYP4V2)	ENSP00000368079.4:p.Cys483Ter
ENST00000502665.1:n.684C>A (CYP4V2)
ENST00000507209.5:n.6147C>A (CYP4V2)
ENST00000511608.5:c.201+1240C>A (KLKB1)
ENST00000513354.5:n.539C>A (CYP4V2)
NM_207352.3:c.1449C>A (CYP4V2)	NP_997235.3:p.Cys483Ter
XM_005262935.2:c.1446C>A (CYP4V2)	XP_005262992.1:p.Cys482Ter
XM_006714184.2:c.1053C>A (CYP4V2)	XP_006714247.1:p.Cys351Ter
XM_005262935.4:c.1446C>A (CYP4V2)	XP_005262992.1:p.Cys482Ter
XM_017008037.1:c.1053C>A (CYP4V2)	XP_016863526.1:p.Cys351Ter
NM_207352.4:c.1449C>A (CYP4V2) MANE Select	NP_997235.3:p.Cys483Ter