Canonical Allele Identifier: CA442641253
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

gnomAD v4: 4-186210617-G-A
MyVariant Identifiers: chr4:g.187131771G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210617G>A , CM000666.2:g.186210617G>A GRCh38
NC_000004.11:g.187131771G>A , CM000666.1:g.187131771G>A GRCh37
NC_000004.10:g.187368765G>A NCBI36
NG_007965.1:g.24098G>A
NG_012095.2:g.6639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1554G>A (CYP4V2) MANE Select ENSP00000368079.4:p.Lys518=
ENST00000378802.4:c.1554G>A (CYP4V2) ENSP00000368079.4:p.Lys518=
ENST00000502665.1:n.789G>A (CYP4V2)
ENST00000507209.5:n.6252G>A (CYP4V2)
ENST00000511608.5:c.201+1345G>A (KLKB1)
ENST00000513354.5:n.644G>A (CYP4V2)
NM_207352.3:c.1554G>A (CYP4V2) NP_997235.3:p.Lys518=
XM_005262935.2:c.1551G>A (CYP4V2) XP_005262992.1:p.Lys517=
XM_006714184.2:c.1158G>A (CYP4V2) XP_006714247.1:p.Lys386=
XM_005262935.4:c.1551G>A (CYP4V2) XP_005262992.1:p.Lys517=
XM_017008037.1:c.1158G>A (CYP4V2) XP_016863526.1:p.Lys386=
NM_207352.4:c.1554G>A (CYP4V2) MANE Select NP_997235.3:p.Lys518=
Search 100 bp 5'
Search 100 bp 3'