Canonical Allele Identifier: CA358950317
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1698830
ClinVar RCV Id: RCV002272687
dbSNP Id: rs2126600867

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208993G>T , CM000666.2:g.186208993G>T GRCh38
NC_000004.11:g.187130147G>T , CM000666.1:g.187130147G>T GRCh37
NC_000004.10:g.187367141G>T NCBI36
NG_007965.1:g.22474G>T
NG_012095.2:g.5015G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1219G>T (CYP4V2) MANE Select ENSP00000368079.4:p.Glu407Ter
ENST00000378802.4:c.1219G>T (CYP4V2) ENSP00000368079.4:p.Glu407Ter
ENST00000502665.1:n.454G>T (CYP4V2)
ENST00000507209.5:n.5917G>T (CYP4V2)
ENST00000511608.5:c.15G>T (KLKB1)
ENST00000513354.5:n.309G>T (CYP4V2)
NM_207352.3:c.1219G>T (CYP4V2) NP_997235.3:p.Glu407Ter
XM_005262935.2:c.1219G>T (CYP4V2) XP_005262992.1:p.Glu407Ter
XM_006714184.2:c.823G>T (CYP4V2) XP_006714247.1:p.Glu275Ter
XM_005262935.4:c.1219G>T (CYP4V2) XP_005262992.1:p.Glu407Ter
XM_017008037.1:c.823G>T (CYP4V2) XP_016863526.1:p.Glu275Ter
NM_207352.4:c.1219G>T (CYP4V2) MANE Select NP_997235.3:p.Glu407Ter