Canonical Allele Identifier: CA358950944
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187131697C>A (hg19) chr4:g.186210543C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210543C>A , CM000666.2:g.186210543C>A GRCh38
NC_000004.11:g.187131697C>A , CM000666.1:g.187131697C>A GRCh37
NC_000004.10:g.187368691C>A NCBI36
NG_007965.1:g.24024C>A
NG_012095.2:g.6565C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1480C>A (CYP4V2) MANE Select ENSP00000368079.4:p.Gln494Lys
ENST00000378802.4:c.1480C>A (CYP4V2) ENSP00000368079.4:p.Gln494Lys
ENST00000502665.1:n.715C>A (CYP4V2)
ENST00000507209.5:n.6178C>A (CYP4V2)
ENST00000511608.5:c.201+1271C>A (KLKB1)
ENST00000513354.5:n.570C>A (CYP4V2)
NM_207352.3:c.1480C>A (CYP4V2) NP_997235.3:p.Gln494Lys
XM_005262935.2:c.1477C>A (CYP4V2) XP_005262992.1:p.Gln493Lys
XM_006714184.2:c.1084C>A (CYP4V2) XP_006714247.1:p.Gln362Lys
XM_005262935.4:c.1477C>A (CYP4V2) XP_005262992.1:p.Gln493Lys
XM_017008037.1:c.1084C>A (CYP4V2) XP_016863526.1:p.Gln362Lys
NM_207352.4:c.1480C>A (CYP4V2) MANE Select NP_997235.3:p.Gln494Lys
Search 100 bp 5'
Search 100 bp 3'