Canonical Allele Identifier: CA358951255

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210602-C-G
• MyVariant Identifiers: chr4:g.187131756C>G (hg19) ; chr4:g.186210602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210602C>G , CM000666.2:g.186210602C>G	GRCh38
NC_000004.11:g.187131756C>G , CM000666.1:g.187131756C>G	GRCh37
NC_000004.10:g.187368750C>G	NCBI36
NG_007965.1:g.24083C>G
NG_012095.2:g.6624C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1539C>G (CYP4V2) MANE Select	ENSP00000368079.4:p.Ile513Met
ENST00000378802.4:c.1539C>G (CYP4V2)	ENSP00000368079.4:p.Ile513Met
ENST00000502665.1:n.774C>G (CYP4V2)
ENST00000507209.5:n.6237C>G (CYP4V2)
ENST00000511608.5:c.201+1330C>G (KLKB1)
ENST00000513354.5:n.629C>G (CYP4V2)
NM_207352.3:c.1539C>G (CYP4V2)	NP_997235.3:p.Ile513Met
XM_005262935.2:c.1536C>G (CYP4V2)	XP_005262992.1:p.Ile512Met
XM_006714184.2:c.1143C>G (CYP4V2)	XP_006714247.1:p.Ile381Met
XM_005262935.4:c.1536C>G (CYP4V2)	XP_005262992.1:p.Ile512Met
XM_017008037.1:c.1143C>G (CYP4V2)	XP_016863526.1:p.Ile381Met
NM_207352.4:c.1539C>G (CYP4V2) MANE Select	NP_997235.3:p.Ile513Met