Canonical Allele Identifier: CA358950542

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187130341G>C (hg19) ; chr4:g.186209187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209187G>C , CM000666.2:g.186209187G>C	GRCh38
NC_000004.11:g.187130341G>C , CM000666.1:g.187130341G>C	GRCh37
NC_000004.10:g.187367335G>C	NCBI36
NG_007965.1:g.22668G>C
NG_012095.2:g.5209G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1320G>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Gln440His
ENST00000378802.4:c.1320G>C (CYP4V2)	ENSP00000368079.4:p.Gln440His
ENST00000502665.1:n.555G>C (CYP4V2)
ENST00000507209.5:n.6018G>C (CYP4V2)
ENST00000511608.5:c.116G>C (KLKB1)
ENST00000513354.5:n.410G>C (CYP4V2)
NM_207352.3:c.1320G>C (CYP4V2)	NP_997235.3:p.Gln440His
XM_005262935.2:c.1317G>C (CYP4V2)	XP_005262992.1:p.Gln439His
XM_006714184.2:c.924G>C (CYP4V2)	XP_006714247.1:p.Gln308His
XM_005262935.4:c.1317G>C (CYP4V2)	XP_005262992.1:p.Gln439His
XM_017008037.1:c.924G>C (CYP4V2)	XP_016863526.1:p.Gln308His
NM_207352.4:c.1320G>C (CYP4V2) MANE Select	NP_997235.3:p.Gln440His