Canonical Allele Identifier: CA112137375

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs966399978
• gnomAD v4: 4-186211205-G-A
• MyVariant Identifiers: chr4:g.187132359G>A (hg19) ; chr4:g.186211205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211205G>A , CM000666.2:g.186211205G>A	GRCh38
NC_000004.11:g.187132359G>A , CM000666.1:g.187132359G>A	GRCh37
NC_000004.10:g.187369353G>A	NCBI36
NG_007965.1:g.24686G>A
NG_012095.2:g.7227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*564G>A (CYP4V2) MANE Select	ENSP00000368079.4:n.*564G>A
ENST00000502665.1:n.1377G>A (CYP4V2)
ENST00000507209.5:n.6840G>A (CYP4V2)
ENST00000511608.5:c.201+1933G>A (KLKB1)
NM_207352.3:c.*564G>A (CYP4V2)	NP_997235.3:n.*564G>A
XM_005262935.2:c.*564G>A (CYP4V2)	XP_005262992.1:n.*564G>A
XM_006714184.2:c.*564G>A (CYP4V2)	XP_006714247.1:n.*564G>A
XM_011531931.1:c.-3504G>A (KLKB1)	XP_011530233.1:n.-3504G>A
XM_011531932.1:c.-3754G>A (KLKB1)	XP_011530234.1:n.-3754G>A
XM_011531933.1:c.-3568G>A (KLKB1)	XP_011530235.1:n.-3568G>A
XM_005262935.4:c.*564G>A (CYP4V2)	XP_005262992.1:n.*564G>A
XM_017008037.1:c.*564G>A (CYP4V2)	XP_016863526.1:n.*564G>A
NM_207352.4:c.*564G>A (CYP4V2) MANE Select	NP_997235.3:n.*564G>A