Canonical Allele Identifier: CA358950811

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131656T>A (hg19) ; chr4:g.186210502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210502T>A , CM000666.2:g.186210502T>A	GRCh38
NC_000004.11:g.187131656T>A , CM000666.1:g.187131656T>A	GRCh37
NC_000004.10:g.187368650T>A	NCBI36
NG_007965.1:g.23983T>A
NG_012095.2:g.6524T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1439T>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Ile480Asn
ENST00000378802.4:c.1439T>A (CYP4V2)	ENSP00000368079.4:p.Ile480Asn
ENST00000502665.1:n.674T>A (CYP4V2)
ENST00000507209.5:n.6137T>A (CYP4V2)
ENST00000511608.5:c.201+1230T>A (KLKB1)
ENST00000513354.5:n.529T>A (CYP4V2)
NM_207352.3:c.1439T>A (CYP4V2)	NP_997235.3:p.Ile480Asn
XM_005262935.2:c.1436T>A (CYP4V2)	XP_005262992.1:p.Ile479Asn
XM_006714184.2:c.1043T>A (CYP4V2)	XP_006714247.1:p.Ile348Asn
XM_005262935.4:c.1436T>A (CYP4V2)	XP_005262992.1:p.Ile479Asn
XM_017008037.1:c.1043T>A (CYP4V2)	XP_016863526.1:p.Ile348Asn
NM_207352.4:c.1439T>A (CYP4V2) MANE Select	NP_997235.3:p.Ile480Asn