Canonical Allele Identifier: CA2606968839

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs2126601690
• gnomAD v3: 4-186209294-T-G
• gnomAD v4: 4-186209294-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209294T>G , CM000666.2:g.186209294T>G	GRCh38
NC_000004.11:g.187130448T>G , CM000666.1:g.187130448T>G	GRCh37
NC_000004.10:g.187367442T>G	NCBI36
NG_007965.1:g.22775T>G
NG_012095.2:g.5316T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1405+22T>G (CYP4V2) MANE Select	ENSP00000368079.4:n.1405+22T>G
ENST00000378802.4:c.1405+22T>G (CYP4V2)	ENSP00000368079.4:n.1405+22T>G
ENST00000502665.1:n.640+22T>G (CYP4V2)
ENST00000507209.5:n.6103+22T>G (CYP4V2)
ENST00000511608.5:c.201+22T>G (KLKB1)
ENST00000513354.5:n.495+22T>G (CYP4V2)
NM_207352.3:c.1405+22T>G (CYP4V2)	NP_997235.3:n.1405+22T>G
XM_005262935.2:c.1402+22T>G (CYP4V2)	XP_005262992.1:n.1402+22T>G
XM_006714184.2:c.1009+22T>G (CYP4V2)	XP_006714247.1:n.1009+22T>G
XM_005262935.4:c.1402+22T>G (CYP4V2)	XP_005262992.1:n.1402+22T>G
XM_017008037.1:c.1009+22T>G (CYP4V2)	XP_016863526.1:n.1009+22T>G
NM_207352.4:c.1405+22T>G (CYP4V2) MANE Select	NP_997235.3:n.1405+22T>G