Canonical Allele Identifier: CA3162865

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs368359294
• ExAC: 4:187131658 C / A
• gnomAD v2: 4-187131658-C-A
• gnomAD v3: 4-186210504-C-A
• gnomAD v4: 4-186210504-C-A
• COSMIC: COSM4409736
• MyVariant Identifiers: chr4:g.187131658C>A (hg19) ; chr4:g.186210504C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210504C>A , CM000666.2:g.186210504C>A	GRCh38
NC_000004.11:g.187131658C>A , CM000666.1:g.187131658C>A	GRCh37
NC_000004.10:g.187368652C>A	NCBI36
NG_007965.1:g.23985C>A
NG_012095.2:g.6526C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1441C>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Leu481Ile
ENST00000378802.4:c.1441C>A (CYP4V2)	ENSP00000368079.4:p.Leu481Ile
ENST00000502665.1:n.676C>A (CYP4V2)
ENST00000507209.5:n.6139C>A (CYP4V2)
ENST00000511608.5:c.201+1232C>A (KLKB1)
ENST00000513354.5:n.531C>A (CYP4V2)
NM_207352.3:c.1441C>A (CYP4V2)	NP_997235.3:p.Leu481Ile
XM_005262935.2:c.1438C>A (CYP4V2)	XP_005262992.1:p.Leu480Ile
XM_006714184.2:c.1045C>A (CYP4V2)	XP_006714247.1:p.Leu349Ile
XM_005262935.4:c.1438C>A (CYP4V2)	XP_005262992.1:p.Leu480Ile
XM_017008037.1:c.1045C>A (CYP4V2)	XP_016863526.1:p.Leu349Ile
NM_207352.4:c.1441C>A (CYP4V2) MANE Select	NP_997235.3:p.Leu481Ile