Canonical Allele Identifier: CA343716
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39255
ClinVar RCV Id: RCV000032532
dbSNP Id: rs199476184

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209087_186209102del , CM000666.2:g.186209087_186209102del GRCh38
NC_000004.11:g.187130241_187130256del , CM000666.1:g.187130241_187130256del GRCh37
NC_000004.10:g.187367235_187367250del NCBI36
NG_007965.1:g.22568_22583del
NG_012095.2:g.5109_5124del

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1226-6_1235del
ENST00000378802.4:c.1226-6_1235del
ENST00000502665.1:n.461-6_470del
ENST00000507209.5:n.5924-6_5933del
ENST00000511608.5:n.22-6_31del
ENST00000513354.5:n.316-6_325del
NM_207352.3:c.1226-6_1235del
XM_005262935.2:c.1226-9_1232del
XM_006714184.2:c.830-6_839del
XM_005262935.4:c.1226-9_1232del
XM_017008037.1:c.830-6_839del
NM_207352.4:c.1226-6_1235del