Canonical Allele Identifier: CA3162647
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 866305
ClinVar RCV Id: RCV001074178
dbSNP Id: rs775749608
ExAC: 4:187120224 C / CT
gnomAD v2: 4-187120224-C-CT
gnomAD v4: 4-186199070-C-CT
MyVariant Identifiers: chr4:g.187120224_187120225insT (hg19) chr4:g.186199070_186199071insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199074dup , CM000666.2:g.186199074dup GRCh38
NC_000004.11:g.187120228dup , CM000666.1:g.187120228dup GRCh37
NC_000004.10:g.187357222dup NCBI36
NG_007965.1:g.12555dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.792dup MANE Select ENSP00000368079.4:p.Thr265TyrfsTer7
ENST00000378802.4:c.792dup ENSP00000368079.4:p.Thr265TyrfsTer7
ENST00000507209.5:n.1633dup
NM_207352.3:c.792dup NP_997235.3:p.Thr265TyrfsTer7
XM_005262935.2:c.792dup XP_005262992.1:p.Thr265TyrfsTer7
XM_006714184.2:c.396dup XP_006714247.1:p.Thr133TyrfsTer7
XM_005262935.4:c.792dup XP_005262992.1:p.Thr265TyrfsTer7
XM_017008037.1:c.396dup XP_016863526.1:p.Thr133TyrfsTer7
NM_207352.4:c.792dup MANE Select NP_997235.3:p.Thr265TyrfsTer7
Search 100 bp 5'
Search 100 bp 3'