Canonical Allele Identifier: CA3162867
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs146494374
COSMIC: COSM586929

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210508C>T , CM000666.2:g.186210508C>T GRCh38
NC_000004.11:g.187131662C>T , CM000666.1:g.187131662C>T GRCh37
NC_000004.10:g.187368656C>T NCBI36
NG_007965.1:g.23989C>T
NG_012095.2:g.6530C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1445C>T MANE Select ENSP00000368079.4:p.Ser482Leu
ENST00000378802.4:c.1445C>T ENSP00000368079.4:p.Ser482Leu
ENST00000502665.1:n.680C>T
ENST00000507209.5:n.6143C>T
ENST00000511608.5:n.201+1236C>T
ENST00000513354.5:n.535C>T
NM_207352.3:c.1445C>T NP_997235.3:p.Ser482Leu
XM_005262935.2:c.1442C>T XP_005262992.1:p.Ser481Leu
XM_006714184.2:c.1049C>T XP_006714247.1:p.Ser350Leu
XM_005262935.4:c.1442C>T XP_005262992.1:p.Ser481Leu
XM_017008037.1:c.1049C>T XP_016863526.1:p.Ser350Leu
NM_207352.4:c.1445C>T MANE Select NP_997235.3:p.Ser482Leu