Canonical Allele Identifier: CA792329639

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1257972779
• gnomAD v3: 4-186210656-T-C
• gnomAD v4: 4-186210656-T-C
• MyVariant Identifiers: chr4:g.187131810T>C (hg19) ; chr4:g.186210656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210656T>C , CM000666.2:g.186210656T>C	GRCh38
NC_000004.11:g.187131810T>C , CM000666.1:g.187131810T>C	GRCh37
NC_000004.10:g.187368804T>C	NCBI36
NG_007965.1:g.24137T>C
NG_012095.2:g.6678T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*15T>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*15T>C
ENST00000378802.4:c.*15T>C (CYP4V2)	ENSP00000368079.4:n.*15T>C
ENST00000502665.1:n.828T>C (CYP4V2)
ENST00000507209.5:n.6291T>C (CYP4V2)
ENST00000511608.5:c.201+1384T>C (KLKB1)
ENST00000513354.5:n.683T>C (CYP4V2)
NM_207352.3:c.*15T>C (CYP4V2)	NP_997235.3:n.*15T>C
XM_005262935.2:c.*15T>C (CYP4V2)	XP_005262992.1:n.*15T>C
XM_006714184.2:c.*15T>C (CYP4V2)	XP_006714247.1:n.*15T>C
XM_005262935.4:c.*15T>C (CYP4V2)	XP_005262992.1:n.*15T>C
XM_017008037.1:c.*15T>C (CYP4V2)	XP_016863526.1:n.*15T>C
NM_207352.4:c.*15T>C (CYP4V2) MANE Select	NP_997235.3:n.*15T>C