Canonical Allele Identifier: CA358951348

Gene: CYP4V2 KLKB1

Linked Data

• MyVariant Identifiers: chr4:g.187131770A>T (hg19) ; chr4:g.186210616A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210616A>T , CM000666.2:g.186210616A>T	GRCh38
NC_000004.11:g.187131770A>T , CM000666.1:g.187131770A>T	GRCh37
NC_000004.10:g.187368764A>T	NCBI36
NG_007965.1:g.24097A>T
NG_012095.2:g.6638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1553A>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Lys518Met
ENST00000378802.4:c.1553A>T (CYP4V2)	ENSP00000368079.4:p.Lys518Met
ENST00000502665.1:n.788A>T (CYP4V2)
ENST00000507209.5:n.6251A>T (CYP4V2)
ENST00000511608.5:c.201+1344A>T (KLKB1)
ENST00000513354.5:n.643A>T (CYP4V2)
NM_207352.3:c.1553A>T (CYP4V2)	NP_997235.3:p.Lys518Met
XM_005262935.2:c.1550A>T (CYP4V2)	XP_005262992.1:p.Lys517Met
XM_006714184.2:c.1157A>T (CYP4V2)	XP_006714247.1:p.Lys386Met
XM_005262935.4:c.1550A>T (CYP4V2)	XP_005262992.1:p.Lys517Met
XM_017008037.1:c.1157A>T (CYP4V2)	XP_016863526.1:p.Lys386Met
NM_207352.4:c.1553A>T (CYP4V2) MANE Select	NP_997235.3:p.Lys518Met