Canonical Allele Identifier: CA3162864

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 862610
• ClinVar RCV Id: RCV001069363
• dbSNP Id: rs368359294
• ExAC: 4:187131658 C / G
• gnomAD v2: 4-187131658-C-G
• gnomAD v3: 4-186210504-C-G
• gnomAD v4: 4-186210504-C-G
• MyVariant Identifiers: chr4:g.187131658C>G (hg19) ; chr4:g.186210504C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1441C>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Leu481Val
ENST00000378802.4:c.1441C>G (CYP4V2)	ENSP00000368079.4:p.Leu481Val
ENST00000502665.1:n.676C>G (CYP4V2)
ENST00000507209.5:n.6139C>G (CYP4V2)
ENST00000511608.5:c.201+1232C>G (KLKB1)
ENST00000513354.5:n.531C>G (CYP4V2)
NM_207352.3:c.1441C>G (CYP4V2)	NP_997235.3:p.Leu481Val
XM_005262935.2:c.1438C>G (CYP4V2)	XP_005262992.1:p.Leu480Val
XM_006714184.2:c.1045C>G (CYP4V2)	XP_006714247.1:p.Leu349Val
XM_005262935.4:c.1438C>G (CYP4V2)	XP_005262992.1:p.Leu480Val
XM_017008037.1:c.1045C>G (CYP4V2)	XP_016863526.1:p.Leu349Val
NM_207352.4:c.1441C>G (CYP4V2) MANE Select	NP_997235.3:p.Leu481Val