Canonical Allele Identifier: CA112135002
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186209125G>A
GRCh37 chr4:g.187130279G>A
Revel Score:
ENST00000378802 (MANE Select) 0.044
ENST00000274118 0.044
gnomAD v2:
4:187130279 G / A
gnomAD v3:
4:186209125 G / A
gnomAD v4:
chr4-186209125-G-A
Joint Max Group AF 0.00007507 (SAS)
Genomes Max Group AF 0.00006837 (EAS)
Exomes Max Group AF 0.00007997 (SAS)
ClinVar RCV:
RCV001905158
ClinVar Variation:
1363936
dbSNP:
1044405297
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209125G>A , CM000666.2:g.186209125G>A GRCh38
NC_000004.11:g.187130279G>A , CM000666.1:g.187130279G>A GRCh37
NC_000004.10:g.187367273G>A NCBI36
NG_007965.1:g.22606G>A
NG_012095.2:g.5147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1258G>A (CYP4V2) MANE Select ENSP00000368079.4:p.Val420Ile
ENST00000378802.4:c.1258G>A (CYP4V2) ENSP00000368079.4:p.Val420Ile
ENST00000502665.1:n.493G>A (CYP4V2)
ENST00000507209.5:n.5956G>A (CYP4V2)
ENST00000511608.5:c.54G>A (KLKB1)
ENST00000513354.5:n.348G>A (CYP4V2)
NM_207352.3:c.1258G>A (CYP4V2) NP_997235.3:p.Val420Ile
XM_005262935.2:c.1255G>A (CYP4V2) XP_005262992.1:p.Val419Ile
XM_006714184.2:c.862G>A (CYP4V2) XP_006714247.1:p.Val288Ile
XM_005262935.4:c.1255G>A (CYP4V2) XP_005262992.1:p.Val419Ile
XM_017008037.1:c.862G>A (CYP4V2) XP_016863526.1:p.Val288Ile
NM_207352.4:c.1258G>A (CYP4V2) MANE Select NP_997235.3:p.Val420Ile
Search 100 bp 5'
Search 100 bp 3'