Canonical Allele Identifier: CA2578249745

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210665A>C , CM000666.2:g.186210665A>C	GRCh38
NC_000004.11:g.187131819A>C , CM000666.1:g.187131819A>C	GRCh37
NC_000004.10:g.187368813A>C	NCBI36
NG_007965.1:g.24146A>C
NG_012095.2:g.6687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*24A>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*24A>C
ENST00000378802.4:c.*24A>C (CYP4V2)	ENSP00000368079.4:n.*24A>C
ENST00000502665.1:n.837A>C (CYP4V2)
ENST00000507209.5:n.6300A>C (CYP4V2)
ENST00000511608.5:c.201+1393A>C (KLKB1)
ENST00000513354.5:n.692A>C (CYP4V2)
NM_207352.3:c.*24A>C (CYP4V2)	NP_997235.3:n.*24A>C
XM_005262935.2:c.*24A>C (CYP4V2)	XP_005262992.1:n.*24A>C
XM_006714184.2:c.*24A>C (CYP4V2)	XP_006714247.1:n.*24A>C
XM_005262935.4:c.*24A>C (CYP4V2)	XP_005262992.1:n.*24A>C
XM_017008037.1:c.*24A>C (CYP4V2)	XP_016863526.1:n.*24A>C
NM_207352.4:c.*24A>C (CYP4V2) MANE Select	NP_997235.3:n.*24A>C