Canonical Allele Identifier: CA179962
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186210645T>C
GRCh37 chr4:g.187131799T>C
gnomAD v2:
4:187131799 T / C
gnomAD v3:
4:186210645 T / C
gnomAD v4:
chr4-186210645-T-C
Joint Max Group AF 0.00828916 (SAS)
Genomes Max Group AF 0.00626464 (SAS)
Exomes Max Group AF 0.00830286 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210645T>C , CM000666.2:g.186210645T>C GRCh38
NC_000004.11:g.187131799T>C , CM000666.1:g.187131799T>C GRCh37
NC_000004.10:g.187368793T>C NCBI36
NG_007965.1:g.24126T>C
NG_012095.2:g.6667T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*4T>C (CYP4V2) MANE Select ENSP00000368079.4:n.*4T>C
ENST00000378802.4:c.*4T>C (CYP4V2) ENSP00000368079.4:n.*4T>C
ENST00000502665.1:n.817T>C (CYP4V2)
ENST00000507209.5:n.6280T>C (CYP4V2)
ENST00000511608.5:c.201+1373T>C (KLKB1)
ENST00000513354.5:n.672T>C (CYP4V2)
NM_207352.3:c.*4T>C (CYP4V2) NP_997235.3:n.*4T>C
XM_005262935.2:c.*4T>C (CYP4V2) XP_005262992.1:n.*4T>C
XM_006714184.2:c.*4T>C (CYP4V2) XP_006714247.1:n.*4T>C
XM_005262935.4:c.*4T>C (CYP4V2) XP_005262992.1:n.*4T>C
XM_017008037.1:c.*4T>C (CYP4V2) XP_016863526.1:n.*4T>C
NM_207352.4:c.*4T>C (CYP4V2) MANE Select NP_997235.3:n.*4T>C
Search 100 bp 5'
Search 100 bp 3'