Canonical Allele Identifier: CA442641231

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 2702687
• ClinVar RCV Id: RCV003577494
• MyVariant Identifiers: chr4:g.187131730T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210576T>C , CM000666.2:g.186210576T>C	GRCh38
NC_000004.11:g.187131730T>C , CM000666.1:g.187131730T>C	GRCh37
NC_000004.10:g.187368724T>C	NCBI36
NG_007965.1:g.24057T>C
NG_012095.2:g.6598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1513T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Leu505=
ENST00000378802.4:c.1513T>C (CYP4V2)	ENSP00000368079.4:p.Leu505=
ENST00000502665.1:n.748T>C (CYP4V2)
ENST00000507209.5:n.6211T>C (CYP4V2)
ENST00000511608.5:c.201+1304T>C (KLKB1)
ENST00000513354.5:n.603T>C (CYP4V2)
NM_207352.3:c.1513T>C (CYP4V2)	NP_997235.3:p.Leu505=
XM_005262935.2:c.1510T>C (CYP4V2)	XP_005262992.1:p.Leu504=
XM_006714184.2:c.1117T>C (CYP4V2)	XP_006714247.1:p.Leu373=
XM_005262935.4:c.1510T>C (CYP4V2)	XP_005262992.1:p.Leu504=
XM_017008037.1:c.1117T>C (CYP4V2)	XP_016863526.1:p.Leu373=
NM_207352.4:c.1513T>C (CYP4V2) MANE Select	NP_997235.3:p.Leu505=