Canonical Allele Identifier: CA1071975473

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736717358
• gnomAD v3: 4-186211428-CT-C
• gnomAD v4: 4-186211428-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211429del , CM000666.2:g.186211429del	GRCh38
NC_000004.11:g.187132583del , CM000666.1:g.187132583del	GRCh37
NC_000004.10:g.187369577del	NCBI36
NG_007965.1:g.24910del
NG_012095.2:g.7451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*788del (CYP4V2) MANE Select	ENSP00000368079.4:n.*788del
ENST00000502665.1:n.1601del (CYP4V2)
ENST00000507209.5:n.7064del (CYP4V2)
ENST00000511608.5:c.201+2157del (KLKB1)
NM_207352.3:c.*788del (CYP4V2)	NP_997235.3:n.*788del
XM_005262935.2:c.*788del (CYP4V2)	XP_005262992.1:n.*788del
XM_006714184.2:c.*788del (CYP4V2)	XP_006714247.1:n.*788del
XM_011531931.1:c.-3280del (KLKB1)	XP_011530233.1:n.-3280del
XM_011531932.1:c.-3530del (KLKB1)	XP_011530234.1:n.-3530del
XM_011531933.1:c.-3344del (KLKB1)	XP_011530235.1:n.-3344del
XM_005262935.4:c.*788del (CYP4V2)	XP_005262992.1:n.*788del
XM_017008037.1:c.*788del (CYP4V2)	XP_016863526.1:n.*788del
NM_207352.4:c.*788del (CYP4V2) MANE Select	NP_997235.3:n.*788del