Canonical Allele Identifier: CA3162494
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 348299
dbSNP Id: rs143272248

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194587C>T , CM000666.2:g.186194587C>T GRCh38
NC_000004.11:g.187115741C>T , CM000666.1:g.187115741C>T GRCh37
NC_000004.10:g.187352735C>T NCBI36
NG_007965.1:g.8068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.302C>T MANE Select ENSP00000368079.4:p.Ala101Val
ENST00000378802.4:c.302C>T ENSP00000368079.4:p.Ala101Val
NM_207352.3:c.302C>T NP_997235.3:p.Ala101Val
XM_005262935.2:c.302C>T XP_005262992.1:p.Ala101Val
XM_006714184.2:c.-9C>T XP_006714247.1:n.-9C>T
XM_005262935.4:c.302C>T XP_005262992.1:p.Ala101Val
XM_017008037.1:c.-9C>T XP_016863526.1:n.-9C>T
NM_207352.4:c.302C>T MANE Select NP_997235.3:p.Ala101Val