Canonical Allele Identifier: CA358950930

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131692C>T (hg19) ; chr4:g.186210538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210538C>T , CM000666.2:g.186210538C>T	GRCh38
NC_000004.11:g.187131692C>T , CM000666.1:g.187131692C>T	GRCh37
NC_000004.10:g.187368686C>T	NCBI36
NG_007965.1:g.24019C>T
NG_012095.2:g.6560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1475C>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Ser492Phe
ENST00000378802.4:c.1475C>T (CYP4V2)	ENSP00000368079.4:p.Ser492Phe
ENST00000502665.1:n.710C>T (CYP4V2)
ENST00000507209.5:n.6173C>T (CYP4V2)
ENST00000511608.5:c.201+1266C>T (KLKB1)
ENST00000513354.5:n.565C>T (CYP4V2)
NM_207352.3:c.1475C>T (CYP4V2)	NP_997235.3:p.Ser492Phe
XM_005262935.2:c.1472C>T (CYP4V2)	XP_005262992.1:p.Ser491Phe
XM_006714184.2:c.1079C>T (CYP4V2)	XP_006714247.1:p.Ser360Phe
XM_005262935.4:c.1472C>T (CYP4V2)	XP_005262992.1:p.Ser491Phe
XM_017008037.1:c.1079C>T (CYP4V2)	XP_016863526.1:p.Ser360Phe
NM_207352.4:c.1475C>T (CYP4V2) MANE Select	NP_997235.3:p.Ser492Phe