Canonical Allele Identifier: CA442882237

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1964113
• ClinVar RCV Id: RCV002721121
• dbSNP Id: rs1409374812
• gnomAD v2: 4-187130143-T-C
• gnomAD v3: 4-186208989-T-C
• gnomAD v4: 4-186208989-T-C
• MyVariant Identifiers: chr4:g.187130143T>C (hg19) ; chr4:g.186208989T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208989T>C , CM000666.2:g.186208989T>C	GRCh38
NC_000004.11:g.187130143T>C , CM000666.1:g.187130143T>C	GRCh37
NC_000004.10:g.187367137T>C	NCBI36
NG_007965.1:g.22470T>C
NG_012095.2:g.5011T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1215T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Asp405=
ENST00000378802.4:c.1215T>C (CYP4V2)	ENSP00000368079.4:p.Asp405=
ENST00000502665.1:n.450T>C (CYP4V2)
ENST00000507209.5:n.5913T>C (CYP4V2)
ENST00000511608.5:c.11T>C (KLKB1)
ENST00000513354.5:n.305T>C (CYP4V2)
NM_207352.3:c.1215T>C (CYP4V2)	NP_997235.3:p.Asp405=
XM_005262935.2:c.1215T>C (CYP4V2)	XP_005262992.1:p.Asp405=
XM_006714184.2:c.819T>C (CYP4V2)	XP_006714247.1:p.Asp273=
XM_005262935.4:c.1215T>C (CYP4V2)	XP_005262992.1:p.Asp405=
XM_017008037.1:c.819T>C (CYP4V2)	XP_016863526.1:p.Asp273=
NM_207352.4:c.1215T>C (CYP4V2) MANE Select	NP_997235.3:p.Asp405=