Canonical Allele Identifier: CA358950600

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187130367C>A (hg19) ; chr4:g.186209213C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209213C>A , CM000666.2:g.186209213C>A	GRCh38
NC_000004.11:g.187130367C>A , CM000666.1:g.187130367C>A	GRCh37
NC_000004.10:g.187367361C>A	NCBI36
NG_007965.1:g.22694C>A
NG_012095.2:g.5235C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1346C>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Ala449Glu
ENST00000378802.4:c.1346C>A (CYP4V2)	ENSP00000368079.4:p.Ala449Glu
ENST00000502665.1:n.581C>A (CYP4V2)
ENST00000507209.5:n.6044C>A (CYP4V2)
ENST00000511608.5:c.142C>A (KLKB1)
ENST00000513354.5:n.436C>A (CYP4V2)
NM_207352.3:c.1346C>A (CYP4V2)	NP_997235.3:p.Ala449Glu
XM_005262935.2:c.1343C>A (CYP4V2)	XP_005262992.1:p.Ala448Glu
XM_006714184.2:c.950C>A (CYP4V2)	XP_006714247.1:p.Ala317Glu
XM_005262935.4:c.1343C>A (CYP4V2)	XP_005262992.1:p.Ala448Glu
XM_017008037.1:c.950C>A (CYP4V2)	XP_016863526.1:p.Ala317Glu
NM_207352.4:c.1346C>A (CYP4V2) MANE Select	NP_997235.3:p.Ala449Glu