Canonical Allele Identifier: CA557053842
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 950810
ClinVar RCV Id: RCV001222607
dbSNP Id: rs1365813584
gnomAD v2: 4-187120181-AAAG-A
gnomAD v3: 4-186199027-AAAG-A
gnomAD v4: 4-186199027-AAAG-A
MyVariant Identifiers: chr4:g.187120182_187120184del (hg19) chr4:g.186199028_186199030del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199031_186199033del , CM000666.2:g.186199031_186199033del GRCh38
NC_000004.11:g.187120185_187120187del , CM000666.1:g.187120185_187120187del GRCh37
NC_000004.10:g.187357179_187357181del NCBI36
NG_007965.1:g.12512_12514del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.749_751del MANE Select ENSP00000368079.4:p.Glu250del
ENST00000378802.4:c.749_751del ENSP00000368079.4:p.Glu250del
ENST00000507209.5:n.1590_1592del
NM_207352.3:c.749_751del NP_997235.3:p.Glu250del
XM_005262935.2:c.749_751del XP_005262992.1:p.Glu250del
XM_006714184.2:c.353_355del XP_006714247.1:p.Glu118del
XM_005262935.4:c.749_751del XP_005262992.1:p.Glu250del
XM_017008037.1:c.353_355del XP_016863526.1:p.Glu118del
NM_207352.4:c.749_751del MANE Select NP_997235.3:p.Glu250del
Search 100 bp 5'
Search 100 bp 3'