Canonical Allele Identifier: CA2580071715

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1918448
• ClinVar RCV Id: RCV002601968
• dbSNP Id: rs1472413135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209008G>A , CM000666.2:g.186209008G>A	GRCh38
NC_000004.11:g.187130162G>A , CM000666.1:g.187130162G>A	GRCh37
NC_000004.10:g.187367156G>A	NCBI36
NG_007965.1:g.22489G>A
NG_012095.2:g.5030G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1225+9G>A (CYP4V2) MANE Select	ENSP00000368079.4:n.1225+9G>A
ENST00000378802.4:c.1225+9G>A (CYP4V2)	ENSP00000368079.4:n.1225+9G>A
ENST00000502665.1:n.460+9G>A (CYP4V2)
ENST00000507209.5:n.5923+9G>A (CYP4V2)
ENST00000511608.5:c.21+9G>A (KLKB1)
ENST00000513354.5:n.315+9G>A (CYP4V2)
NM_207352.3:c.1225+9G>A (CYP4V2)	NP_997235.3:n.1225+9G>A
XM_005262935.2:c.1225+9G>A (CYP4V2)	XP_005262992.1:n.1225+9G>A
XM_006714184.2:c.829+9G>A (CYP4V2)	XP_006714247.1:n.829+9G>A
XM_005262935.4:c.1225+9G>A (CYP4V2)	XP_005262992.1:n.1225+9G>A
XM_017008037.1:c.829+9G>A (CYP4V2)	XP_016863526.1:n.829+9G>A
NM_207352.4:c.1225+9G>A (CYP4V2) MANE Select	NP_997235.3:n.1225+9G>A