Canonical Allele Identifier: CA358950398

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736627785
• MyVariant Identifiers: chr4:g.187130276G>A (hg19) ; chr4:g.186209122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209122G>A , CM000666.2:g.186209122G>A	GRCh38
NC_000004.11:g.187130276G>A , CM000666.1:g.187130276G>A	GRCh37
NC_000004.10:g.187367270G>A	NCBI36
NG_007965.1:g.22603G>A
NG_012095.2:g.5144G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1255G>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Ala419Thr
ENST00000378802.4:c.1255G>A (CYP4V2)	ENSP00000368079.4:p.Ala419Thr
ENST00000502665.1:n.490G>A (CYP4V2)
ENST00000507209.5:n.5953G>A (CYP4V2)
ENST00000511608.5:c.51G>A (KLKB1)
ENST00000513354.5:n.345G>A (CYP4V2)
NM_207352.3:c.1255G>A (CYP4V2)	NP_997235.3:p.Ala419Thr
XM_005262935.2:c.1252G>A (CYP4V2)	XP_005262992.1:p.Ala418Thr
XM_006714184.2:c.859G>A (CYP4V2)	XP_006714247.1:p.Ala287Thr
XM_005262935.4:c.1252G>A (CYP4V2)	XP_005262992.1:p.Ala418Thr
XM_017008037.1:c.859G>A (CYP4V2)	XP_016863526.1:p.Ala287Thr
NM_207352.4:c.1255G>A (CYP4V2) MANE Select	NP_997235.3:p.Ala419Thr