Canonical Allele Identifier: CA1071975529

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736719165
• gnomAD v3: 4-186211471-GC-G
• gnomAD v4: 4-186211471-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211474del , CM000666.2:g.186211474del	GRCh38
NC_000004.11:g.187132628del , CM000666.1:g.187132628del	GRCh37
NC_000004.10:g.187369622del	NCBI36
NG_007965.1:g.24955del
NG_012095.2:g.7496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*833del (CYP4V2) MANE Select	ENSP00000368079.4:n.*833del
ENST00000502665.1:n.1646del (CYP4V2)
ENST00000507209.5:n.7109del (CYP4V2)
ENST00000511608.5:c.201+2202del (KLKB1)
NM_207352.3:c.*833del (CYP4V2)	NP_997235.3:n.*833del
XM_005262935.2:c.*833del (CYP4V2)	XP_005262992.1:n.*833del
XM_006714184.2:c.*833del (CYP4V2)	XP_006714247.1:n.*833del
XM_011531931.1:c.-3235del (KLKB1)	XP_011530233.1:n.-3235del
XM_011531932.1:c.-3485del (KLKB1)	XP_011530234.1:n.-3485del
XM_011531933.1:c.-3299del (KLKB1)	XP_011530235.1:n.-3299del
XM_005262935.4:c.*833del (CYP4V2)	XP_005262992.1:n.*833del
XM_017008037.1:c.*833del (CYP4V2)	XP_016863526.1:n.*833del
NM_207352.4:c.*833del (CYP4V2) MANE Select	NP_997235.3:n.*833del