Canonical Allele Identifier: CA358951094

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131727C>A (hg19) ; chr4:g.186210573C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210573C>A , CM000666.2:g.186210573C>A	GRCh38
NC_000004.11:g.187131727C>A , CM000666.1:g.187131727C>A	GRCh37
NC_000004.10:g.187368721C>A	NCBI36
NG_007965.1:g.24054C>A
NG_012095.2:g.6595C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1510C>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Gln504Lys
ENST00000378802.4:c.1510C>A (CYP4V2)	ENSP00000368079.4:p.Gln504Lys
ENST00000502665.1:n.745C>A (CYP4V2)
ENST00000507209.5:n.6208C>A (CYP4V2)
ENST00000511608.5:c.201+1301C>A (KLKB1)
ENST00000513354.5:n.600C>A (CYP4V2)
NM_207352.3:c.1510C>A (CYP4V2)	NP_997235.3:p.Gln504Lys
XM_005262935.2:c.1507C>A (CYP4V2)	XP_005262992.1:p.Gln503Lys
XM_006714184.2:c.1114C>A (CYP4V2)	XP_006714247.1:p.Gln372Lys
XM_005262935.4:c.1507C>A (CYP4V2)	XP_005262992.1:p.Gln503Lys
XM_017008037.1:c.1114C>A (CYP4V2)	XP_016863526.1:p.Gln372Lys
NM_207352.4:c.1510C>A (CYP4V2) MANE Select	NP_997235.3:p.Gln504Lys