Canonical Allele Identifier: CA358951250

Gene: CYP4V2 KLKB1

Linked Data

• gnomAD v4: 4-186210601-T-C
• MyVariant Identifiers: chr4:g.187131755T>C (hg19) ; chr4:g.186210601T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1538T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Ile513Thr
ENST00000378802.4:c.1538T>C (CYP4V2)	ENSP00000368079.4:p.Ile513Thr
ENST00000502665.1:n.773T>C (CYP4V2)
ENST00000507209.5:n.6236T>C (CYP4V2)
ENST00000511608.5:c.201+1329T>C (KLKB1)
ENST00000513354.5:n.628T>C (CYP4V2)
NM_207352.3:c.1538T>C (CYP4V2)	NP_997235.3:p.Ile513Thr
XM_005262935.2:c.1535T>C (CYP4V2)	XP_005262992.1:p.Ile512Thr
XM_006714184.2:c.1142T>C (CYP4V2)	XP_006714247.1:p.Ile381Thr
XM_005262935.4:c.1535T>C (CYP4V2)	XP_005262992.1:p.Ile512Thr
XM_017008037.1:c.1142T>C (CYP4V2)	XP_016863526.1:p.Ile381Thr
NM_207352.4:c.1538T>C (CYP4V2) MANE Select	NP_997235.3:p.Ile513Thr