Canonical Allele Identifier: CA1071976090

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v3: 4-186211709-A-AC
• gnomAD v4: 4-186211709-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211709_186211710insC , CM000666.2:g.186211709_186211710insC	GRCh38
NC_000004.11:g.187132863_187132864insC , CM000666.1:g.187132863_187132864insC	GRCh37
NC_000004.10:g.187369857_187369858insC	NCBI36
NG_007965.1:g.25190_25191insC
NG_012095.2:g.7731_7732insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1068_*1069insC (CYP4V2) MANE Select	ENSP00000368079.4:n.*1068_*1069insC
ENST00000502665.1:n.1881_1882insC (CYP4V2)
ENST00000507209.5:n.7344_7345insC (CYP4V2)
ENST00000511608.5:c.201+2437_201+2438insC (KLKB1)
NM_207352.3:c.*1068_*1069insC (CYP4V2)	NP_997235.3:n.*1068_*1069insC
XM_005262935.2:c.*1068_*1069insC (CYP4V2)	XP_005262992.1:n.*1068_*1069insC
XM_006714184.2:c.*1068_*1069insC (CYP4V2)	XP_006714247.1:n.*1068_*1069insC
XM_011531931.1:c.-3000_-2999insC (KLKB1)	XP_011530233.1:n.-3000_-2999insC
XM_011531932.1:c.-3250_-3249insC (KLKB1)	XP_011530234.1:n.-3250_-3249insC
XM_011531933.1:c.-3064_-3063insC (KLKB1)	XP_011530235.1:n.-3064_-3063insC
XM_005262935.4:c.*1068_*1069insC (CYP4V2)	XP_005262992.1:n.*1068_*1069insC
XM_017008037.1:c.*1068_*1069insC (CYP4V2)	XP_016863526.1:n.*1068_*1069insC
NM_207352.4:c.*1068_*1069insC (CYP4V2) MANE Select	NP_997235.3:n.*1068_*1069insC