Canonical Allele Identifier: CA1071975636

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736722950
• gnomAD v3: 4-186211653-G-A
• gnomAD v4: 4-186211653-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211653G>A , CM000666.2:g.186211653G>A	GRCh38
NC_000004.11:g.187132807G>A , CM000666.1:g.187132807G>A	GRCh37
NC_000004.10:g.187369801G>A	NCBI36
NG_007965.1:g.25134G>A
NG_012095.2:g.7675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*1012G>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*1012G>A
ENST00000502665.1:n.1825G>A (CYP4V2)
ENST00000507209.5:n.7288G>A (CYP4V2)
ENST00000511608.5:c.201+2381G>A (KLKB1)
NM_207352.3:c.*1012G>A (CYP4V2)	NP_997235.3:n.*1012G>A
XM_005262935.2:c.*1012G>A (CYP4V2)	XP_005262992.1:n.*1012G>A
XM_006714184.2:c.*1012G>A (CYP4V2)	XP_006714247.1:n.*1012G>A
XM_011531931.1:c.-3056G>A (KLKB1)	XP_011530233.1:n.-3056G>A
XM_011531932.1:c.-3306G>A (KLKB1)	XP_011530234.1:n.-3306G>A
XM_011531933.1:c.-3120G>A (KLKB1)	XP_011530235.1:n.-3120G>A
XM_005262935.4:c.*1012G>A (CYP4V2)	XP_005262992.1:n.*1012G>A
XM_017008037.1:c.*1012G>A (CYP4V2)	XP_016863526.1:n.*1012G>A
NM_207352.4:c.*1012G>A (CYP4V2) MANE Select	NP_997235.3:n.*1012G>A