Canonical Allele Identifier: CA358950682

Gene: CYP4V2 KLKB1

Linked Data

• ClinVar Variation Id: 998781
• ClinVar RCV Id: RCV001294681
• dbSNP Id: rs1490621697
• gnomAD v2: 4-187130408-G-T
• gnomAD v4: 4-186209254-G-T
• MyVariant Identifiers: chr4:g.187130408G>T (hg19) ; chr4:g.186209254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186209254G>T , CM000666.2:g.186209254G>T	GRCh38
NC_000004.11:g.187130408G>T , CM000666.1:g.187130408G>T	GRCh37
NC_000004.10:g.187367402G>T	NCBI36
NG_007965.1:g.22735G>T
NG_012095.2:g.5276G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1387G>T (CYP4V2) MANE Select	ENSP00000368079.4:p.Gly463Cys
ENST00000378802.4:c.1387G>T (CYP4V2)	ENSP00000368079.4:p.Gly463Cys
ENST00000502665.1:n.622G>T (CYP4V2)
ENST00000507209.5:n.6085G>T (CYP4V2)
ENST00000511608.5:c.183G>T (KLKB1)
ENST00000513354.5:n.477G>T (CYP4V2)
NM_207352.3:c.1387G>T (CYP4V2)	NP_997235.3:p.Gly463Cys
XM_005262935.2:c.1384G>T (CYP4V2)	XP_005262992.1:p.Gly462Cys
XM_006714184.2:c.991G>T (CYP4V2)	XP_006714247.1:p.Gly331Cys
XM_005262935.4:c.1384G>T (CYP4V2)	XP_005262992.1:p.Gly462Cys
XM_017008037.1:c.991G>T (CYP4V2)	XP_016863526.1:p.Gly331Cys
NM_207352.4:c.1387G>T (CYP4V2) MANE Select	NP_997235.3:p.Gly463Cys