Canonical Allele Identifier: CA358950631

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1024335
• ClinVar RCV Id: RCV001324501
• dbSNP Id: rs1304803543
• gnomAD v2: 4-187130382-C-T
• gnomAD v3: 4-186209228-C-T
• gnomAD v4: 4-186209228-C-T
• MyVariant Identifiers: chr4:g.187130382C>T (hg19) ; chr4:g.186209228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209228C>T , CM000666.2:g.186209228C>T	GRCh38
NC_000004.11:g.187130382C>T , CM000666.1:g.187130382C>T	GRCh37
NC_000004.10:g.187367376C>T	NCBI36
NG_007965.1:g.22709C>T
NG_012095.2:g.5250C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1361C>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Pro454Leu
ENST00000378802.4:c.1361C>T (CYP4V2)	ENSP00000368079.4:p.Pro454Leu
ENST00000502665.1:n.596C>T (CYP4V2)
ENST00000507209.5:n.6059C>T (CYP4V2)
ENST00000511608.5:c.157C>T (KLKB1)
ENST00000513354.5:n.451C>T (CYP4V2)
NM_207352.3:c.1361C>T (CYP4V2)	NP_997235.3:p.Pro454Leu
XM_005262935.2:c.1358C>T (CYP4V2)	XP_005262992.1:p.Pro453Leu
XM_006714184.2:c.965C>T (CYP4V2)	XP_006714247.1:p.Pro322Leu
XM_005262935.4:c.1358C>T (CYP4V2)	XP_005262992.1:p.Pro453Leu
XM_017008037.1:c.965C>T (CYP4V2)	XP_016863526.1:p.Pro322Leu
NM_207352.4:c.1361C>T (CYP4V2) MANE Select	NP_997235.3:p.Pro454Leu