Canonical Allele Identifier: CA343740

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 39271
• ClinVar RCV Id: RCV000032548 ; RCV000355196 ; RCV000726829 ; RCV001075704
• dbSNP Id: rs207482233
• MyVariant Identifiers: chr4:g.187122303_187122319delinsGC (hg19) ; chr4:g.186201149_186201165delinsGC (hg38)
• PubMed: PMID:15042513 ; PMID:15860296 ; PMID:15937078 ; PMID:17962476 ; PMID:19508456 ; PMID:21565171 ; PMID:22497028 ; PMID:22693542 ; PMID:23661369 ; PMID:23793346 ; PMID:24739949 ; PMID:25593508 ; PMID:25629076 ; PMID:26085992 ; PMID:26865810

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186201149_186201165delinsGC , CM000666.2:g.186201149_186201165delinsGC	GRCh38
NC_000004.11:g.187122303_187122319delinsGC , CM000666.1:g.187122303_187122319delinsGC	GRCh37
NC_000004.10:g.187359297_187359313delinsGC	NCBI36
NG_007965.1:g.14630_14646delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.802-8_810delinsGC
ENST00000378802.4:c.802-8_810delinsGC
ENST00000507209.5:n.1643-8_1651delinsGC
NM_207352.3:c.802-8_810delinsGC
XM_005262935.2:c.802-8_810delinsGC
XM_006714184.2:c.406-8_414delinsGC
XM_005262935.4:c.802-8_810delinsGC
XM_017008037.1:c.406-8_414delinsGC
NM_207352.4:c.802-8_810delinsGC