Canonical Allele Identifier: CA358948093
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714695
ClinVar RCV Id: RCV002299070

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199053C>G , CM000666.2:g.186199053C>G GRCh38
NC_000004.11:g.187120207C>G , CM000666.1:g.187120207C>G GRCh37
NC_000004.10:g.187357201C>G NCBI36
NG_007965.1:g.12534C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.771C>G MANE Select ENSP00000368079.4:p.Ser257Arg
ENST00000378802.4:c.771C>G ENSP00000368079.4:p.Ser257Arg
ENST00000507209.5:n.1612C>G
NM_207352.3:c.771C>G NP_997235.3:p.Ser257Arg
XM_005262935.2:c.771C>G XP_005262992.1:p.Ser257Arg
XM_006714184.2:c.375C>G XP_006714247.1:p.Ser125Arg
XM_005262935.4:c.771C>G XP_005262992.1:p.Ser257Arg
XM_017008037.1:c.375C>G XP_016863526.1:p.Ser125Arg
NM_207352.4:c.771C>G MANE Select NP_997235.3:p.Ser257Arg