Canonical Allele Identifier: CA343745
Gene: CYP4V2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39274
ClinVar RCV Id: RCV000032551
dbSNP Id: rs199476196
COSMIC: COSM230559

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186201329C>T , CM000666.2:g.186201329C>T GRCh38
NC_000004.10:g.187359477C>T NCBI36
NC_000004.11:g.187122483C>T , CM000666.1:g.187122483C>T GRCh37
NG_007965.1:g.14810C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.4:c.974C>T ENSP00000368079.4:p.Thr325Ile
ENST00000507209.5:n.1815C>T
NM_207352.3:c.974C>T VV NP_997235.3:p.Thr325Ile
XM_005262935.2:c.974C>T XP_005262992.1:p.Thr325Ile
XM_006714184.2:c.578C>T XP_006714247.1:p.Thr193Ile