Canonical Allele Identifier: CA3162860
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 348314
ClinVar RCV Id: RCV000333426 RCV000362424 RCV001342943
dbSNP Id: rs762821992
ExAC: 4:187131640 A / G
gnomAD v2: 4-187131640-A-G
gnomAD v3: 4-186210486-A-G
gnomAD v4: 4-186210486-A-G
MyVariant Identifiers: chr4:g.187131640A>G (hg19) chr4:g.186210486A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210486A>G , CM000666.2:g.186210486A>G GRCh38
NC_000004.11:g.187131640A>G , CM000666.1:g.187131640A>G GRCh37
NC_000004.10:g.187368634A>G NCBI36
NG_007965.1:g.23967A>G
NG_012095.2:g.6508A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1423A>G (CYP4V2) MANE Select ENSP00000368079.4:p.Met475Val
ENST00000378802.4:c.1423A>G (CYP4V2) ENSP00000368079.4:p.Met475Val
ENST00000502665.1:n.658A>G (CYP4V2)
ENST00000507209.5:n.6121A>G (CYP4V2)
ENST00000511608.5:c.201+1214A>G (KLKB1)
ENST00000513354.5:n.513A>G (CYP4V2)
NM_207352.3:c.1423A>G (CYP4V2) NP_997235.3:p.Met475Val
XM_005262935.2:c.1420A>G (CYP4V2) XP_005262992.1:p.Met474Val
XM_006714184.2:c.1027A>G (CYP4V2) XP_006714247.1:p.Met343Val
XM_005262935.4:c.1420A>G (CYP4V2) XP_005262992.1:p.Met474Val
XM_017008037.1:c.1027A>G (CYP4V2) XP_016863526.1:p.Met343Val
NM_207352.4:c.1423A>G (CYP4V2) MANE Select NP_997235.3:p.Met475Val
Search 100 bp 5'
Search 100 bp 3'