Canonical Allele Identifier: CA112135232

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1006404
• ClinVar RCV Id: RCV001303440
• dbSNP Id: rs1038955378
• gnomAD v2: 4-187130383-A-G
• gnomAD v4: 4-186209229-A-G
• MyVariant Identifiers: chr4:g.187130383A>G (hg19) ; chr4:g.186209229A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209229A>G , CM000666.2:g.186209229A>G	GRCh38
NC_000004.11:g.187130383A>G , CM000666.1:g.187130383A>G	GRCh37
NC_000004.10:g.187367377A>G	NCBI36
NG_007965.1:g.22710A>G
NG_012095.2:g.5251A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1362A>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Pro454=
ENST00000378802.4:c.1362A>G (CYP4V2)	ENSP00000368079.4:p.Pro454=
ENST00000502665.1:n.597A>G (CYP4V2)
ENST00000507209.5:n.6060A>G (CYP4V2)
ENST00000511608.5:c.158A>G (KLKB1)
ENST00000513354.5:n.452A>G (CYP4V2)
NM_207352.3:c.1362A>G (CYP4V2)	NP_997235.3:p.Pro454=
XM_005262935.2:c.1359A>G (CYP4V2)	XP_005262992.1:p.Pro453=
XM_006714184.2:c.966A>G (CYP4V2)	XP_006714247.1:p.Pro322=
XM_005262935.4:c.1359A>G (CYP4V2)	XP_005262992.1:p.Pro453=
XM_017008037.1:c.966A>G (CYP4V2)	XP_016863526.1:p.Pro322=
NM_207352.4:c.1362A>G (CYP4V2) MANE Select	NP_997235.3:p.Pro454=