Canonical Allele Identifier: CA1071975323

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1736708581
• gnomAD v3: 4-186211211-G-GCACC
• gnomAD v4: 4-186211211-G-GCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211214_186211217dup , CM000666.2:g.186211214_186211217dup	GRCh38
NC_000004.11:g.187132368_187132371dup , CM000666.1:g.187132368_187132371dup	GRCh37
NC_000004.10:g.187369362_187369365dup	NCBI36
NG_007965.1:g.24695_24698dup
NG_012095.2:g.7236_7239dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.*573_*576dup (CYP4V2) MANE Select	ENSP00000368079.4:n.*573_*576dup
ENST00000502665.1:n.1386_1389dup (CYP4V2)
ENST00000507209.5:n.6849_6852dup (CYP4V2)
ENST00000511608.5:c.201+1942_201+1945dup (KLKB1)
NM_207352.3:c.*573_*576dup (CYP4V2)	NP_997235.3:n.*573_*576dup
XM_005262935.2:c.*573_*576dup (CYP4V2)	XP_005262992.1:n.*573_*576dup
XM_006714184.2:c.*573_*576dup (CYP4V2)	XP_006714247.1:n.*573_*576dup
XM_011531931.1:c.-3495_-3492dup (KLKB1)	XP_011530233.1:n.-3495_-3492dup
XM_011531932.1:c.-3745_-3742dup (KLKB1)	XP_011530234.1:n.-3745_-3742dup
XM_011531933.1:c.-3559_-3556dup (KLKB1)	XP_011530235.1:n.-3559_-3556dup
XM_005262935.4:c.*573_*576dup (CYP4V2)	XP_005262992.1:n.*573_*576dup
XM_017008037.1:c.*573_*576dup (CYP4V2)	XP_016863526.1:n.*573_*576dup
NM_207352.4:c.*573_*576dup (CYP4V2) MANE Select	NP_997235.3:n.*573_*576dup