Canonical Allele Identifier: CA792328541

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs1438727632
• gnomAD v3: 4-186209243-CCTT-C
• gnomAD v4: 4-186209243-CCTT-C
• MyVariant Identifiers: chr4:g.187130398_187130400del (hg19) ; chr4:g.186209244_186209246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209246_186209248del , CM000666.2:g.186209246_186209248del	GRCh38
NC_000004.11:g.187130400_187130402del , CM000666.1:g.187130400_187130402del	GRCh37
NC_000004.10:g.187367394_187367396del	NCBI36
NG_007965.1:g.22727_22729del
NG_012095.2:g.5268_5270del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1379_1381del (CYP4V2) MANE Select	ENSP00000368079.4:p.Phe460del
ENST00000378802.4:c.1379_1381del (CYP4V2)	ENSP00000368079.4:p.Phe460del
ENST00000502665.1:n.614_616del (CYP4V2)
ENST00000507209.5:n.6077_6079del (CYP4V2)
ENST00000511608.5:c.175_177del (KLKB1)
ENST00000513354.5:n.469_471del (CYP4V2)
NM_207352.3:c.1379_1381del (CYP4V2)	NP_997235.3:p.Phe460del
XM_005262935.2:c.1376_1378del (CYP4V2)	XP_005262992.1:p.Phe459del
XM_006714184.2:c.983_985del (CYP4V2)	XP_006714247.1:p.Phe328del
XM_005262935.4:c.1376_1378del (CYP4V2)	XP_005262992.1:p.Phe459del
XM_017008037.1:c.983_985del (CYP4V2)	XP_016863526.1:p.Phe328del
NM_207352.4:c.1379_1381del (CYP4V2) MANE Select	NP_997235.3:p.Phe460del