Canonical Allele Identifier: CA2764875428

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211480A>C , CM000666.2:g.186211480A>C	GRCh38
NC_000004.11:g.187132634A>C , CM000666.1:g.187132634A>C	GRCh37
NC_000004.10:g.187369628A>C	NCBI36
NG_007965.1:g.24961A>C
NG_012095.2:g.7502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*839A>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*839A>C
ENST00000502665.1:n.1652A>C (CYP4V2)
ENST00000507209.5:n.7115A>C (CYP4V2)
ENST00000511608.5:c.201+2208A>C (KLKB1)
NM_207352.3:c.*839A>C (CYP4V2)	NP_997235.3:n.*839A>C
XM_005262935.2:c.*839A>C (CYP4V2)	XP_005262992.1:n.*839A>C
XM_006714184.2:c.*839A>C (CYP4V2)	XP_006714247.1:n.*839A>C
XM_011531931.1:c.-3229A>C (KLKB1)	XP_011530233.1:n.-3229A>C
XM_011531932.1:c.-3479A>C (KLKB1)	XP_011530234.1:n.-3479A>C
XM_011531933.1:c.-3293A>C (KLKB1)	XP_011530235.1:n.-3293A>C
XM_005262935.4:c.*839A>C (CYP4V2)	XP_005262992.1:n.*839A>C
XM_017008037.1:c.*839A>C (CYP4V2)	XP_016863526.1:n.*839A>C
NM_207352.4:c.*839A>C (CYP4V2) MANE Select	NP_997235.3:n.*839A>C