Canonical Allele Identifier: CA3162835

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 348313
• ClinVar RCV Id: RCV000276069 ; RCV000368375 ; RCV001210445
• dbSNP Id: rs200623218
• ExAC: 4:187130360 G / A
• gnomAD v2: 4-187130360-G-A
• gnomAD v3: 4-186209206-G-A
• gnomAD v4: 4-186209206-G-A
• MyVariant Identifiers: chr4:g.187130360G>A (hg19) ; chr4:g.186209206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209206G>A , CM000666.2:g.186209206G>A	GRCh38
NC_000004.11:g.187130360G>A , CM000666.1:g.187130360G>A	GRCh37
NC_000004.10:g.187367354G>A	NCBI36
NG_007965.1:g.22687G>A
NG_012095.2:g.5228G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1339G>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Glu447Lys
ENST00000378802.4:c.1339G>A (CYP4V2)	ENSP00000368079.4:p.Glu447Lys
ENST00000502665.1:n.574G>A (CYP4V2)
ENST00000507209.5:n.6037G>A (CYP4V2)
ENST00000511608.5:c.135G>A (KLKB1)
ENST00000513354.5:n.429G>A (CYP4V2)
NM_207352.3:c.1339G>A (CYP4V2)	NP_997235.3:p.Glu447Lys
XM_005262935.2:c.1336G>A (CYP4V2)	XP_005262992.1:p.Glu446Lys
XM_006714184.2:c.943G>A (CYP4V2)	XP_006714247.1:p.Glu315Lys
XM_005262935.4:c.1336G>A (CYP4V2)	XP_005262992.1:p.Glu446Lys
XM_017008037.1:c.943G>A (CYP4V2)	XP_016863526.1:p.Glu315Lys
NM_207352.4:c.1339G>A (CYP4V2) MANE Select	NP_997235.3:p.Glu447Lys