Canonical Allele Identifier: CA2672898289

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210694-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210694T>A , CM000666.2:g.186210694T>A	GRCh38
NC_000004.11:g.187131848T>A , CM000666.1:g.187131848T>A	GRCh37
NC_000004.10:g.187368842T>A	NCBI36
NG_007965.1:g.24175T>A
NG_012095.2:g.6716T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*53T>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*53T>A
ENST00000378802.4:c.*53T>A (CYP4V2)	ENSP00000368079.4:n.*53T>A
ENST00000502665.1:n.866T>A (CYP4V2)
ENST00000507209.5:n.6329T>A (CYP4V2)
ENST00000511608.5:c.201+1422T>A (KLKB1)
ENST00000513354.5:n.721T>A (CYP4V2)
NM_207352.3:c.*53T>A (CYP4V2)	NP_997235.3:n.*53T>A
XM_005262935.2:c.*53T>A (CYP4V2)	XP_005262992.1:n.*53T>A
XM_006714184.2:c.*53T>A (CYP4V2)	XP_006714247.1:n.*53T>A
XM_005262935.4:c.*53T>A (CYP4V2)	XP_005262992.1:n.*53T>A
XM_017008037.1:c.*53T>A (CYP4V2)	XP_016863526.1:n.*53T>A
NM_207352.4:c.*53T>A (CYP4V2) MANE Select	NP_997235.3:n.*53T>A