Canonical Allele Identifier: CA358951244

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131755T>A (hg19) ; chr4:g.186210601T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210601T>A , CM000666.2:g.186210601T>A	GRCh38
NC_000004.11:g.187131755T>A , CM000666.1:g.187131755T>A	GRCh37
NC_000004.10:g.187368749T>A	NCBI36
NG_007965.1:g.24082T>A
NG_012095.2:g.6623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1538T>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Ile513Asn
ENST00000378802.4:c.1538T>A (CYP4V2)	ENSP00000368079.4:p.Ile513Asn
ENST00000502665.1:n.773T>A (CYP4V2)
ENST00000507209.5:n.6236T>A (CYP4V2)
ENST00000511608.5:c.201+1329T>A (KLKB1)
ENST00000513354.5:n.628T>A (CYP4V2)
NM_207352.3:c.1538T>A (CYP4V2)	NP_997235.3:p.Ile513Asn
XM_005262935.2:c.1535T>A (CYP4V2)	XP_005262992.1:p.Ile512Asn
XM_006714184.2:c.1142T>A (CYP4V2)	XP_006714247.1:p.Ile381Asn
XM_005262935.4:c.1535T>A (CYP4V2)	XP_005262992.1:p.Ile512Asn
XM_017008037.1:c.1142T>A (CYP4V2)	XP_016863526.1:p.Ile381Asn
NM_207352.4:c.1538T>A (CYP4V2) MANE Select	NP_997235.3:p.Ile513Asn