Canonical Allele Identifier: CA3162790
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs768812651

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209000G>A , CM000666.2:g.186209000G>A GRCh38
NC_000004.11:g.187130154G>A , CM000666.1:g.187130154G>A GRCh37
NC_000004.10:g.187367148G>A NCBI36
NG_007965.1:g.22481G>A
NG_012095.2:g.5022G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1225+1G>A (CYP4V2) MANE Select ENSP00000368079.4:n.1225+1G>A
ENST00000378802.4:c.1225+1G>A (CYP4V2) ENSP00000368079.4:n.1225+1G>A
ENST00000502665.1:n.460+1G>A (CYP4V2)
ENST00000507209.5:n.5923+1G>A (CYP4V2)
ENST00000511608.5:c.21+1G>A (KLKB1)
ENST00000513354.5:n.315+1G>A (CYP4V2)
NM_207352.3:c.1225+1G>A (CYP4V2) NP_997235.3:n.1225+1G>A
XM_005262935.2:c.1225+1G>A (CYP4V2) XP_005262992.1:n.1225+1G>A
XM_006714184.2:c.829+1G>A (CYP4V2) XP_006714247.1:n.829+1G>A
XM_005262935.4:c.1225+1G>A (CYP4V2) XP_005262992.1:n.1225+1G>A
XM_017008037.1:c.829+1G>A (CYP4V2) XP_016863526.1:n.829+1G>A
NM_207352.4:c.1225+1G>A (CYP4V2) MANE Select NP_997235.3:n.1225+1G>A