Canonical Allele Identifier: CA358950463

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187130306G>C (hg19) ; chr4:g.186209152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209152G>C , CM000666.2:g.186209152G>C	GRCh38
NC_000004.11:g.187130306G>C , CM000666.1:g.187130306G>C	GRCh37
NC_000004.10:g.187367300G>C	NCBI36
NG_007965.1:g.22633G>C
NG_012095.2:g.5174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1285G>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Asp429His
ENST00000378802.4:c.1285G>C (CYP4V2)	ENSP00000368079.4:p.Asp429His
ENST00000502665.1:n.520G>C (CYP4V2)
ENST00000507209.5:n.5983G>C (CYP4V2)
ENST00000511608.5:c.81G>C (KLKB1)
ENST00000513354.5:n.375G>C (CYP4V2)
NM_207352.3:c.1285G>C (CYP4V2)	NP_997235.3:p.Asp429His
XM_005262935.2:c.1282G>C (CYP4V2)	XP_005262992.1:p.Asp428His
XM_006714184.2:c.889G>C (CYP4V2)	XP_006714247.1:p.Asp297His
XM_005262935.4:c.1282G>C (CYP4V2)	XP_005262992.1:p.Asp428His
XM_017008037.1:c.889G>C (CYP4V2)	XP_016863526.1:p.Asp297His
NM_207352.4:c.1285G>C (CYP4V2) MANE Select	NP_997235.3:p.Asp429His