Canonical Allele Identifier: CA358950538

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 1401206
• ClinVar RCV Id: RCV001935041
• dbSNP Id: rs1736631406
• MyVariant Identifiers: chr4:g.187130339C>T (hg19) ; chr4:g.186209185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209185C>T , CM000666.2:g.186209185C>T	GRCh38
NC_000004.11:g.187130339C>T , CM000666.1:g.187130339C>T	GRCh37
NC_000004.10:g.187367333C>T	NCBI36
NG_007965.1:g.22666C>T
NG_012095.2:g.5207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1318C>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Gln440Ter
ENST00000378802.4:c.1318C>T (CYP4V2)	ENSP00000368079.4:p.Gln440Ter
ENST00000502665.1:n.553C>T (CYP4V2)
ENST00000507209.5:n.6016C>T (CYP4V2)
ENST00000511608.5:c.114C>T (KLKB1)
ENST00000513354.5:n.408C>T (CYP4V2)
NM_207352.3:c.1318C>T (CYP4V2)	NP_997235.3:p.Gln440Ter
XM_005262935.2:c.1315C>T (CYP4V2)	XP_005262992.1:p.Gln439Ter
XM_006714184.2:c.922C>T (CYP4V2)	XP_006714247.1:p.Gln308Ter
XM_005262935.4:c.1315C>T (CYP4V2)	XP_005262992.1:p.Gln439Ter
XM_017008037.1:c.922C>T (CYP4V2)	XP_016863526.1:p.Gln308Ter
NM_207352.4:c.1318C>T (CYP4V2) MANE Select	NP_997235.3:p.Gln440Ter