Canonical Allele Identifier: CA358951067

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1378067
• ClinVar RCV Id: RCV001880959
• dbSNP Id: rs1178760499
• gnomAD v3: 4-186210568-A-C
• gnomAD v4: 4-186210568-A-C
• MyVariant Identifiers: chr4:g.187131722A>C (hg19) ; chr4:g.186210568A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210568A>C , CM000666.2:g.186210568A>C	GRCh38
NC_000004.11:g.187131722A>C , CM000666.1:g.187131722A>C	GRCh37
NC_000004.10:g.187368716A>C	NCBI36
NG_007965.1:g.24049A>C
NG_012095.2:g.6590A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1505A>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Glu502Ala
ENST00000378802.4:c.1505A>C (CYP4V2)	ENSP00000368079.4:p.Glu502Ala
ENST00000502665.1:n.740A>C (CYP4V2)
ENST00000507209.5:n.6203A>C (CYP4V2)
ENST00000511608.5:c.201+1296A>C (KLKB1)
ENST00000513354.5:n.595A>C (CYP4V2)
NM_207352.3:c.1505A>C (CYP4V2)	NP_997235.3:p.Glu502Ala
XM_005262935.2:c.1502A>C (CYP4V2)	XP_005262992.1:p.Glu501Ala
XM_006714184.2:c.1109A>C (CYP4V2)	XP_006714247.1:p.Glu370Ala
XM_005262935.4:c.1502A>C (CYP4V2)	XP_005262992.1:p.Glu501Ala
XM_017008037.1:c.1109A>C (CYP4V2)	XP_016863526.1:p.Glu370Ala
NM_207352.4:c.1505A>C (CYP4V2) MANE Select	NP_997235.3:p.Glu502Ala