Canonical Allele Identifier: CA442882598

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186209178-G-A
• MyVariant Identifiers: chr4:g.187130332G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209178G>A , CM000666.2:g.186209178G>A	GRCh38
NC_000004.11:g.187130332G>A , CM000666.1:g.187130332G>A	GRCh37
NC_000004.10:g.187367326G>A	NCBI36
NG_007965.1:g.22659G>A
NG_012095.2:g.5200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1311G>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Glu437=
ENST00000378802.4:c.1311G>A (CYP4V2)	ENSP00000368079.4:p.Glu437=
ENST00000502665.1:n.546G>A (CYP4V2)
ENST00000507209.5:n.6009G>A (CYP4V2)
ENST00000511608.5:c.107G>A (KLKB1)
ENST00000513354.5:n.401G>A (CYP4V2)
NM_207352.3:c.1311G>A (CYP4V2)	NP_997235.3:p.Glu437=
XM_005262935.2:c.1308G>A (CYP4V2)	XP_005262992.1:p.Glu436=
XM_006714184.2:c.915G>A (CYP4V2)	XP_006714247.1:p.Glu305=
XM_005262935.4:c.1308G>A (CYP4V2)	XP_005262992.1:p.Glu436=
XM_017008037.1:c.915G>A (CYP4V2)	XP_016863526.1:p.Glu305=
NM_207352.4:c.1311G>A (CYP4V2) MANE Select	NP_997235.3:p.Glu437=