Canonical Allele Identifier: CA358950490

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1398531485
• gnomAD v4: 4-186209164-T-C
• MyVariant Identifiers: chr4:g.187130318T>C (hg19) ; chr4:g.186209164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209164T>C , CM000666.2:g.186209164T>C	GRCh38
NC_000004.11:g.187130318T>C , CM000666.1:g.187130318T>C	GRCh37
NC_000004.10:g.187367312T>C	NCBI36
NG_007965.1:g.22645T>C
NG_012095.2:g.5186T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1297T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Phe433Leu
ENST00000378802.4:c.1297T>C (CYP4V2)	ENSP00000368079.4:p.Phe433Leu
ENST00000502665.1:n.532T>C (CYP4V2)
ENST00000507209.5:n.5995T>C (CYP4V2)
ENST00000511608.5:c.93T>C (KLKB1)
ENST00000513354.5:n.387T>C (CYP4V2)
NM_207352.3:c.1297T>C (CYP4V2)	NP_997235.3:p.Phe433Leu
XM_005262935.2:c.1294T>C (CYP4V2)	XP_005262992.1:p.Phe432Leu
XM_006714184.2:c.901T>C (CYP4V2)	XP_006714247.1:p.Phe301Leu
XM_005262935.4:c.1294T>C (CYP4V2)	XP_005262992.1:p.Phe432Leu
XM_017008037.1:c.901T>C (CYP4V2)	XP_016863526.1:p.Phe301Leu
NM_207352.4:c.1297T>C (CYP4V2) MANE Select	NP_997235.3:p.Phe433Leu