Canonical Allele Identifier: CA557395759

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1231592846
• gnomAD v2: 4-187130201-G-GTCTACCTTGCTCCGGTCTCATAATGTATTGA
• gnomAD v3: 4-186209047-G-GTCTACCTTGCTCCGGTCTCATAATGTATTGA
• gnomAD v4: 4-186209047-G-GTCTACCTTGCTCCGGTCTCATAATGTATTGA
• MyVariant Identifiers: chr4:g.187130201_187130202insTCTACCTTGCTCCGGTCTCATAATGTATTGA (hg19) ; chr4:g.186209047_186209048insTCTACCTTGCTCCGGTCTCATAATGTATTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209048_186209078dup , CM000666.2:g.186209048_186209078dup	GRCh38
NC_000004.11:g.187130202_187130232dup , CM000666.1:g.187130202_187130232dup	GRCh37
NC_000004.10:g.187367196_187367226dup	NCBI36
NG_007965.1:g.22529_22559dup
NG_012095.2:g.5070_5100dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1226-45_1226-15dup (CYP4V2) MANE Select	ENSP00000368079.4:n.1226-45_1226-15dup
ENST00000378802.4:c.1226-45_1226-15dup (CYP4V2)	ENSP00000368079.4:n.1226-45_1226-15dup
ENST00000502665.1:n.461-45_461-15dup (CYP4V2)
ENST00000507209.5:n.5924-45_5924-15dup (CYP4V2)
ENST00000511608.5:c.22-45_22-15dup (KLKB1)
ENST00000513354.5:n.316-45_316-15dup (CYP4V2)
NM_207352.3:c.1226-45_1226-15dup (CYP4V2)	NP_997235.3:n.1226-45_1226-15dup
XM_005262935.2:c.1226-48_1226-18dup (CYP4V2)	XP_005262992.1:n.1226-48_1226-18dup
XM_006714184.2:c.830-45_830-15dup (CYP4V2)	XP_006714247.1:n.830-45_830-15dup
XM_005262935.4:c.1226-48_1226-18dup (CYP4V2)	XP_005262992.1:n.1226-48_1226-18dup
XM_017008037.1:c.830-45_830-15dup (CYP4V2)	XP_016863526.1:n.830-45_830-15dup
NM_207352.4:c.1226-45_1226-15dup (CYP4V2) MANE Select	NP_997235.3:n.1226-45_1226-15dup