Canonical Allele Identifier: CA2764868972

Gene: CYP4V2 KLKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210389C>A , CM000666.2:g.186210389C>A	GRCh38
NC_000004.11:g.187131543C>A , CM000666.1:g.187131543C>A	GRCh37
NC_000004.10:g.187368537C>A	NCBI36
NG_007965.1:g.23870C>A
NG_012095.2:g.6411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1406-80C>A (CYP4V2) MANE Select	ENSP00000368079.4:n.1406-80C>A
ENST00000378802.4:c.1406-80C>A (CYP4V2)	ENSP00000368079.4:n.1406-80C>A
ENST00000502665.1:n.641-80C>A (CYP4V2)
ENST00000507209.5:n.6104-80C>A (CYP4V2)
ENST00000511608.5:c.201+1117C>A (KLKB1)
ENST00000513354.5:n.496-80C>A (CYP4V2)
NM_207352.3:c.1406-80C>A (CYP4V2)	NP_997235.3:n.1406-80C>A
XM_005262935.2:c.1403-80C>A (CYP4V2)	XP_005262992.1:n.1403-80C>A
XM_006714184.2:c.1010-80C>A (CYP4V2)	XP_006714247.1:n.1010-80C>A
XM_005262935.4:c.1403-80C>A (CYP4V2)	XP_005262992.1:n.1403-80C>A
XM_017008037.1:c.1010-80C>A (CYP4V2)	XP_016863526.1:n.1010-80C>A
NM_207352.4:c.1406-80C>A (CYP4V2) MANE Select	NP_997235.3:n.1406-80C>A