Canonical Allele Identifier: CA343724
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39260
dbSNP Id: rs199476186

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194538C>T , CM000666.2:g.186194538C>T GRCh38
NC_000004.11:g.187115692C>T , CM000666.1:g.187115692C>T GRCh37
NC_000004.10:g.187352686C>T NCBI36
NG_007965.1:g.8019C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.253C>T MANE Select ENSP00000368079.4:p.Arg85Cys
ENST00000378802.4:c.253C>T ENSP00000368079.4:p.Arg85Cys
NM_207352.3:c.253C>T NP_997235.3:p.Arg85Cys
XM_005262935.2:c.253C>T XP_005262992.1:p.Arg85Cys
XM_006714184.2:c.-58C>T XP_006714247.1:n.-58C>T
XM_005262935.4:c.253C>T XP_005262992.1:p.Arg85Cys
XM_017008037.1:c.-58C>T XP_016863526.1:n.-58C>T
NM_207352.4:c.253C>T MANE Select NP_997235.3:p.Arg85Cys