Canonical Allele Identifier: CA1139655859
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 964936
ClinVar RCV Id: RCV001239264
dbSNP Id: rs1736627536

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209116_186209117delinsTT , CM000666.2:g.186209116_186209117delinsTT GRCh38
NC_000004.11:g.187130270_187130271delinsTT , CM000666.1:g.187130270_187130271delinsTT GRCh37
NC_000004.10:g.187367264_187367265delinsTT NCBI36
NG_007965.1:g.22597_22598delinsTT
NG_012095.2:g.5138_5139delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1249_1250delinsTT (CYP4V2) MANE Select ENSP00000368079.4:p.Thr417Phe
ENST00000378802.4:c.1249_1250delinsTT (CYP4V2) ENSP00000368079.4:p.Thr417Phe
ENST00000502665.1:n.484_485delinsTT (CYP4V2)
ENST00000507209.5:n.5947_5948delinsTT (CYP4V2)
ENST00000511608.5:c.45_46delinsTT (KLKB1)
ENST00000513354.5:n.339_340delinsTT (CYP4V2)
NM_207352.3:c.1249_1250delinsTT (CYP4V2) NP_997235.3:p.Thr417Phe
XM_005262935.2:c.1246_1247delinsTT (CYP4V2) XP_005262992.1:p.Thr416Phe
XM_006714184.2:c.853_854delinsTT (CYP4V2) XP_006714247.1:p.Thr285Phe
XM_005262935.4:c.1246_1247delinsTT (CYP4V2) XP_005262992.1:p.Thr416Phe
XM_017008037.1:c.853_854delinsTT (CYP4V2) XP_016863526.1:p.Thr285Phe
NM_207352.4:c.1249_1250delinsTT (CYP4V2) MANE Select NP_997235.3:p.Thr417Phe