Canonical Allele Identifier: CA358950683

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs749375330
• gnomAD v2: 4-187130409-G-A
• gnomAD v4: 4-186209255-G-A
• MyVariant Identifiers: chr4:g.187130409G>A (hg19) ; chr4:g.186209255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209255G>A , CM000666.2:g.186209255G>A	GRCh38
NC_000004.11:g.187130409G>A , CM000666.1:g.187130409G>A	GRCh37
NC_000004.10:g.187367403G>A	NCBI36
NG_007965.1:g.22736G>A
NG_012095.2:g.5277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1388G>A (CYP4V2) MANE Select	ENSP00000368079.4:p.Gly463Asp
ENST00000378802.4:c.1388G>A (CYP4V2)	ENSP00000368079.4:p.Gly463Asp
ENST00000502665.1:n.623G>A (CYP4V2)
ENST00000507209.5:n.6086G>A (CYP4V2)
ENST00000511608.5:c.184G>A (KLKB1)
ENST00000513354.5:n.478G>A (CYP4V2)
NM_207352.3:c.1388G>A (CYP4V2)	NP_997235.3:p.Gly463Asp
XM_005262935.2:c.1385G>A (CYP4V2)	XP_005262992.1:p.Gly462Asp
XM_006714184.2:c.992G>A (CYP4V2)	XP_006714247.1:p.Gly331Asp
XM_005262935.4:c.1385G>A (CYP4V2)	XP_005262992.1:p.Gly462Asp
XM_017008037.1:c.992G>A (CYP4V2)	XP_016863526.1:p.Gly331Asp
NM_207352.4:c.1388G>A (CYP4V2) MANE Select	NP_997235.3:p.Gly463Asp