Canonical Allele Identifier: CA358950721
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1736636059

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209273G>A , CM000666.2:g.186209273G>A GRCh38
NC_000004.11:g.187130427G>A , CM000666.1:g.187130427G>A GRCh37
NC_000004.10:g.187367421G>A NCBI36
NG_007965.1:g.22754G>A
NG_012095.2:g.5295G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1405+1G>A (CYP4V2) MANE Select ENSP00000368079.4:n.1405+1G>A
ENST00000378802.4:c.1405+1G>A (CYP4V2) ENSP00000368079.4:n.1405+1G>A
ENST00000502665.1:n.640+1G>A (CYP4V2)
ENST00000507209.5:n.6103+1G>A (CYP4V2)
ENST00000511608.5:c.201+1G>A (KLKB1)
ENST00000513354.5:n.495+1G>A (CYP4V2)
NM_207352.3:c.1405+1G>A (CYP4V2) NP_997235.3:n.1405+1G>A
XM_005262935.2:c.1402+1G>A (CYP4V2) XP_005262992.1:n.1402+1G>A
XM_006714184.2:c.1009+1G>A (CYP4V2) XP_006714247.1:n.1009+1G>A
XM_005262935.4:c.1402+1G>A (CYP4V2) XP_005262992.1:n.1402+1G>A
XM_017008037.1:c.1009+1G>A (CYP4V2) XP_016863526.1:n.1009+1G>A
NM_207352.4:c.1405+1G>A (CYP4V2) MANE Select NP_997235.3:n.1405+1G>A