Canonical Allele Identifier: CA358950722
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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