Canonical Allele Identifier: CA3162789
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186208996G>T
GRCh37 chr4:g.187130150G>T
Revel Score:
ENST00000511608 0.076
ENST00000378802 (MANE Select) 0.115
ENST00000274118 0.115
gnomAD v2:
4:187130150 G / T
gnomAD v4:
chr4-186208996-G-T
Joint Max Group AF 0.00009194 (SAS)
Exomes Max Group AF 0.00009791 (SAS)
ClinVar RCV:
RCV002675510
ClinVar Variation:
1940989
dbSNP:
747225939
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208996G>T , CM000666.2:g.186208996G>T GRCh38
NC_000004.11:g.187130150G>T , CM000666.1:g.187130150G>T GRCh37
NC_000004.10:g.187367144G>T NCBI36
NG_007965.1:g.22477G>T
NG_012095.2:g.5018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1222G>T (CYP4V2) MANE Select ENSP00000368079.4:p.Val408Leu
ENST00000378802.4:c.1222G>T (CYP4V2) ENSP00000368079.4:p.Val408Leu
ENST00000502665.1:n.457G>T (CYP4V2)
ENST00000507209.5:n.5920G>T (CYP4V2)
ENST00000511608.5:c.18G>T (KLKB1)
ENST00000513354.5:n.312G>T (CYP4V2)
NM_207352.3:c.1222G>T (CYP4V2) NP_997235.3:p.Val408Leu
XM_005262935.2:c.1222G>T (CYP4V2) XP_005262992.1:p.Val408Leu
XM_006714184.2:c.826G>T (CYP4V2) XP_006714247.1:p.Val276Leu
XM_005262935.4:c.1222G>T (CYP4V2) XP_005262992.1:p.Val408Leu
XM_017008037.1:c.826G>T (CYP4V2) XP_016863526.1:p.Val276Leu
NM_207352.4:c.1222G>T (CYP4V2) MANE Select NP_997235.3:p.Val408Leu
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