Canonical Allele Identifier: CA2764875328

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211312G>T , CM000666.2:g.186211312G>T	GRCh38
NC_000004.11:g.187132466G>T , CM000666.1:g.187132466G>T	GRCh37
NC_000004.10:g.187369460G>T	NCBI36
NG_007965.1:g.24793G>T
NG_012095.2:g.7334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*671G>T (CYP4V2) MANE Select	ENSP00000368079.4:n.*671G>T
ENST00000502665.1:n.1484G>T (CYP4V2)
ENST00000507209.5:n.6947G>T (CYP4V2)
ENST00000511608.5:c.201+2040G>T (KLKB1)
NM_207352.3:c.*671G>T (CYP4V2)	NP_997235.3:n.*671G>T
XM_005262935.2:c.*671G>T (CYP4V2)	XP_005262992.1:n.*671G>T
XM_006714184.2:c.*671G>T (CYP4V2)	XP_006714247.1:n.*671G>T
XM_011531931.1:c.-3397G>T (KLKB1)	XP_011530233.1:n.-3397G>T
XM_011531932.1:c.-3647G>T (KLKB1)	XP_011530234.1:n.-3647G>T
XM_011531933.1:c.-3461G>T (KLKB1)	XP_011530235.1:n.-3461G>T
XM_005262935.4:c.*671G>T (CYP4V2)	XP_005262992.1:n.*671G>T
XM_017008037.1:c.*671G>T (CYP4V2)	XP_016863526.1:n.*671G>T
NM_207352.4:c.*671G>T (CYP4V2) MANE Select	NP_997235.3:n.*671G>T