Canonical Allele Identifier: CA358948051
Gene: CYP4V2 HGNC NCBI

Linked Data

COSMIC: COSM402546

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199037G>C , CM000666.2:g.186199037G>C GRCh38
NC_000004.11:g.187120191G>C , CM000666.1:g.187120191G>C GRCh37
NC_000004.10:g.187357185G>C NCBI36
NG_007965.1:g.12518G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.755G>C MANE Select ENSP00000368079.4:p.Trp252Ser
ENST00000378802.4:c.755G>C ENSP00000368079.4:p.Trp252Ser
ENST00000507209.5:n.1596G>C
NM_207352.3:c.755G>C NP_997235.3:p.Trp252Ser
XM_005262935.2:c.755G>C XP_005262992.1:p.Trp252Ser
XM_006714184.2:c.359G>C XP_006714247.1:p.Trp120Ser
XM_005262935.4:c.755G>C XP_005262992.1:p.Trp252Ser
XM_017008037.1:c.359G>C XP_016863526.1:p.Trp120Ser
NM_207352.4:c.755G>C MANE Select NP_997235.3:p.Trp252Ser