Canonical Allele Identifier: CA358950805

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 3079741
• ClinVar RCV Id: RCV004370585
• dbSNP Id: rs1736676944
• gnomAD v3: 4-186210499-C-A
• gnomAD v4: 4-186210499-C-A
• MyVariant Identifiers: chr4:g.187131653C>A (hg19) ; chr4:g.186210499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210499C>A , CM000666.2:g.186210499C>A	GRCh38
NC_000004.11:g.187131653C>A , CM000666.1:g.187131653C>A	GRCh37
NC_000004.10:g.187368647C>A	NCBI36
NG_007965.1:g.23980C>A
NG_012095.2:g.6521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1436C>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Thr479Asn
ENST00000378802.4:c.1436C>A (CYP4V2)	ENSP00000368079.4:p.Thr479Asn
ENST00000502665.1:n.671C>A (CYP4V2)
ENST00000507209.5:n.6134C>A (CYP4V2)
ENST00000511608.5:c.201+1227C>A (KLKB1)
ENST00000513354.5:n.526C>A (CYP4V2)
NM_207352.3:c.1436C>A (CYP4V2)	NP_997235.3:p.Thr479Asn
XM_005262935.2:c.1433C>A (CYP4V2)	XP_005262992.1:p.Thr478Asn
XM_006714184.2:c.1040C>A (CYP4V2)	XP_006714247.1:p.Thr347Asn
XM_005262935.4:c.1433C>A (CYP4V2)	XP_005262992.1:p.Thr478Asn
XM_017008037.1:c.1040C>A (CYP4V2)	XP_016863526.1:p.Thr347Asn
NM_207352.4:c.1436C>A (CYP4V2) MANE Select	NP_997235.3:p.Thr479Asn