Canonical Allele Identifier: CA358950816

Gene: CYP4V2 KLKB1

Linked Data

• COSMIC: COSM6469465
• MyVariant Identifiers: chr4:g.187131659T>C (hg19) ; chr4:g.186210505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210505T>C , CM000666.2:g.186210505T>C	GRCh38
NC_000004.11:g.187131659T>C , CM000666.1:g.187131659T>C	GRCh37
NC_000004.10:g.187368653T>C	NCBI36
NG_007965.1:g.23986T>C
NG_012095.2:g.6527T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1442T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Leu481Pro
ENST00000378802.4:c.1442T>C (CYP4V2)	ENSP00000368079.4:p.Leu481Pro
ENST00000502665.1:n.677T>C (CYP4V2)
ENST00000507209.5:n.6140T>C (CYP4V2)
ENST00000511608.5:c.201+1233T>C (KLKB1)
ENST00000513354.5:n.532T>C (CYP4V2)
NM_207352.3:c.1442T>C (CYP4V2)	NP_997235.3:p.Leu481Pro
XM_005262935.2:c.1439T>C (CYP4V2)	XP_005262992.1:p.Leu480Pro
XM_006714184.2:c.1046T>C (CYP4V2)	XP_006714247.1:p.Leu349Pro
XM_005262935.4:c.1439T>C (CYP4V2)	XP_005262992.1:p.Leu480Pro
XM_017008037.1:c.1046T>C (CYP4V2)	XP_016863526.1:p.Leu349Pro
NM_207352.4:c.1442T>C (CYP4V2) MANE Select	NP_997235.3:p.Leu481Pro