Canonical Allele Identifier: CA2573138168
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458402
ClinVar RCV Id: RCV001949496
dbSNP Id: rs2126582145
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194565del , CM000666.2:g.186194565del GRCh38
NC_000004.11:g.187115719del , CM000666.1:g.187115719del GRCh37
NC_000004.10:g.187352713del NCBI36
NG_007965.1:g.8046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.280del MANE Select ENSP00000368079.4:p.Val94SerfsTer17
ENST00000378802.4:c.280del ENSP00000368079.4:p.Val94SerfsTer17
NM_207352.3:c.280del NP_997235.3:p.Val94SerfsTer17
XM_005262935.2:c.280del XP_005262992.1:p.Val94SerfsTer17
XM_006714184.2:c.-31del XP_006714247.1:n.-31del
XM_005262935.4:c.280del XP_005262992.1:p.Val94SerfsTer17
XM_017008037.1:c.-31del XP_016863526.1:n.-31del
NM_207352.4:c.280del MANE Select NP_997235.3:p.Val94SerfsTer17
Search 100 bp 5'
Search 100 bp 3'