Canonical Allele Identifier: CA3162891

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs760912692
• ExAC: 4:187131770 AGAG / A
• gnomAD v2: 4-187131770-AGAG-A
• gnomAD v3: 4-186210616-AGAG-A
• gnomAD v4: 4-186210616-AGAG-A
• MyVariant Identifiers: chr4:g.187131771_187131773del (hg19) ; chr4:g.186210618_186210620del (hg38) ; chr4:g.186210617_186210619del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186210620_186210622del , CM000666.2:g.186210620_186210622del	GRCh38
NC_000004.11:g.187131774_187131776del , CM000666.1:g.187131774_187131776del	GRCh37
NC_000004.10:g.187368768_187368770del	NCBI36
NG_007965.1:g.24101_24103del
NG_012095.2:g.6642_6644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1557_1559del (CYP4V2) MANE Select	ENSP00000368079.4:p.Arg520del
ENST00000378802.4:c.1557_1559del (CYP4V2)	ENSP00000368079.4:p.Arg520del
ENST00000502665.1:n.792_794del (CYP4V2)
ENST00000507209.5:n.6255_6257del (CYP4V2)
ENST00000511608.5:c.201+1348_201+1350del (KLKB1)
ENST00000513354.5:n.647_649del (CYP4V2)
NM_207352.3:c.1557_1559del (CYP4V2)	NP_997235.3:p.Arg520del
XM_005262935.2:c.1554_1556del (CYP4V2)	XP_005262992.1:p.Arg519del
XM_006714184.2:c.1161_1163del (CYP4V2)	XP_006714247.1:p.Arg388del
XM_005262935.4:c.1554_1556del (CYP4V2)	XP_005262992.1:p.Arg519del
XM_017008037.1:c.1161_1163del (CYP4V2)	XP_016863526.1:p.Arg388del
NM_207352.4:c.1557_1559del (CYP4V2) MANE Select	NP_997235.3:p.Arg520del