Canonical Allele Identifier: CA358950866

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 2321601
• ClinVar RCV Id: RCV002893759
• MyVariant Identifiers: chr4:g.187131679T>G (hg19) ; chr4:g.186210525T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210525T>G , CM000666.2:g.186210525T>G	GRCh38
NC_000004.11:g.187131679T>G , CM000666.1:g.187131679T>G	GRCh37
NC_000004.10:g.187368673T>G	NCBI36
NG_007965.1:g.24006T>G
NG_012095.2:g.6547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1462T>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Phe488Val
ENST00000378802.4:c.1462T>G (CYP4V2)	ENSP00000368079.4:p.Phe488Val
ENST00000502665.1:n.697T>G (CYP4V2)
ENST00000507209.5:n.6160T>G (CYP4V2)
ENST00000511608.5:c.201+1253T>G (KLKB1)
ENST00000513354.5:n.552T>G (CYP4V2)
NM_207352.3:c.1462T>G (CYP4V2)	NP_997235.3:p.Phe488Val
XM_005262935.2:c.1459T>G (CYP4V2)	XP_005262992.1:p.Phe487Val
XM_006714184.2:c.1066T>G (CYP4V2)	XP_006714247.1:p.Phe356Val
XM_005262935.4:c.1459T>G (CYP4V2)	XP_005262992.1:p.Phe487Val
XM_017008037.1:c.1066T>G (CYP4V2)	XP_016863526.1:p.Phe356Val
NM_207352.4:c.1462T>G (CYP4V2) MANE Select	NP_997235.3:p.Phe488Val