Canonical Allele Identifier: CA358951332

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131768G>T (hg19) ; chr4:g.186210614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210614G>T , CM000666.2:g.186210614G>T	GRCh38
NC_000004.11:g.187131768G>T , CM000666.1:g.187131768G>T	GRCh37
NC_000004.10:g.187368762G>T	NCBI36
NG_007965.1:g.24095G>T
NG_012095.2:g.6636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1551G>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Leu517Phe
ENST00000378802.4:c.1551G>T (CYP4V2)	ENSP00000368079.4:p.Leu517Phe
ENST00000502665.1:n.786G>T (CYP4V2)
ENST00000507209.5:n.6249G>T (CYP4V2)
ENST00000511608.5:c.201+1342G>T (KLKB1)
ENST00000513354.5:n.641G>T (CYP4V2)
NM_207352.3:c.1551G>T (CYP4V2)	NP_997235.3:p.Leu517Phe
XM_005262935.2:c.1548G>T (CYP4V2)	XP_005262992.1:p.Leu516Phe
XM_006714184.2:c.1155G>T (CYP4V2)	XP_006714247.1:p.Leu385Phe
XM_005262935.4:c.1548G>T (CYP4V2)	XP_005262992.1:p.Leu516Phe
XM_017008037.1:c.1155G>T (CYP4V2)	XP_016863526.1:p.Leu385Phe
NM_207352.4:c.1551G>T (CYP4V2) MANE Select	NP_997235.3:p.Leu517Phe