Canonical Allele Identifier: CA358950351

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187130252T>C (hg19) ; chr4:g.186209098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209098T>C , CM000666.2:g.186209098T>C	GRCh38
NC_000004.11:g.187130252T>C , CM000666.1:g.187130252T>C	GRCh37
NC_000004.10:g.187367246T>C	NCBI36
NG_007965.1:g.22579T>C
NG_012095.2:g.5120T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1231T>C (CYP4V2) MANE Select	ENSP00000368079.4:p.Tyr411His
ENST00000378802.4:c.1231T>C (CYP4V2)	ENSP00000368079.4:p.Tyr411His
ENST00000502665.1:n.466T>C (CYP4V2)
ENST00000507209.5:n.5929T>C (CYP4V2)
ENST00000511608.5:c.27T>C (KLKB1)
ENST00000513354.5:n.321T>C (CYP4V2)
NM_207352.3:c.1231T>C (CYP4V2)	NP_997235.3:p.Tyr411His
XM_005262935.2:c.1228T>C (CYP4V2)	XP_005262992.1:p.Tyr410His
XM_006714184.2:c.835T>C (CYP4V2)	XP_006714247.1:p.Tyr279His
XM_005262935.4:c.1228T>C (CYP4V2)	XP_005262992.1:p.Tyr410His
XM_017008037.1:c.835T>C (CYP4V2)	XP_016863526.1:p.Tyr279His
NM_207352.4:c.1231T>C (CYP4V2) MANE Select	NP_997235.3:p.Tyr411His