Canonical Allele Identifier: CA358950357

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186209100-C-G
• MyVariant Identifiers: chr4:g.187130254C>G (hg19) ; chr4:g.186209100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209100C>G , CM000666.2:g.186209100C>G	GRCh38
NC_000004.11:g.187130254C>G , CM000666.1:g.187130254C>G	GRCh37
NC_000004.10:g.187367248C>G	NCBI36
NG_007965.1:g.22581C>G
NG_012095.2:g.5122C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1233C>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Tyr411Ter
ENST00000378802.4:c.1233C>G (CYP4V2)	ENSP00000368079.4:p.Tyr411Ter
ENST00000502665.1:n.468C>G (CYP4V2)
ENST00000507209.5:n.5931C>G (CYP4V2)
ENST00000511608.5:c.29C>G (KLKB1)
ENST00000513354.5:n.323C>G (CYP4V2)
NM_207352.3:c.1233C>G (CYP4V2)	NP_997235.3:p.Tyr411Ter
XM_005262935.2:c.1230C>G (CYP4V2)	XP_005262992.1:p.Tyr410Ter
XM_006714184.2:c.837C>G (CYP4V2)	XP_006714247.1:p.Tyr279Ter
XM_005262935.4:c.1230C>G (CYP4V2)	XP_005262992.1:p.Tyr410Ter
XM_017008037.1:c.837C>G (CYP4V2)	XP_016863526.1:p.Tyr279Ter
NM_207352.4:c.1233C>G (CYP4V2) MANE Select	NP_997235.3:p.Tyr411Ter