Canonical Allele Identifier: CA358950693
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209261G>C , CM000666.2:g.186209261G>C GRCh38
NC_000004.11:g.187130415G>C , CM000666.1:g.187130415G>C GRCh37
NC_000004.10:g.187367409G>C NCBI36
NG_007965.1:g.22742G>C
NG_012095.2:g.5283G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1394G>C MANE Select ENSP00000368079.4:p.Arg465Thr
ENST00000378802.4:c.1394G>C ENSP00000368079.4:p.Arg465Thr
ENST00000502665.1:n.629G>C
ENST00000507209.5:n.6092G>C
ENST00000511608.5:n.190G>C
ENST00000513354.5:n.484G>C
NM_207352.3:c.1394G>C NP_997235.3:p.Arg465Thr
XM_005262935.2:c.1391G>C XP_005262992.1:p.Arg464Thr
XM_006714184.2:c.998G>C XP_006714247.1:p.Arg333Thr
XM_005262935.4:c.1391G>C XP_005262992.1:p.Arg464Thr
XM_017008037.1:c.998G>C XP_016863526.1:p.Arg333Thr
NM_207352.4:c.1394G>C MANE Select NP_997235.3:p.Arg465Thr