Canonical Allele Identifier: CA3162397
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs534826180
ExAC: 4:187112946 CG / C
gnomAD v2: 4-187112946-CG-C
gnomAD v3: 4-186191792-CG-C
gnomAD v4: 4-186191792-CG-C
MyVariant Identifiers: chr4:g.187112947del (hg19) chr4:g.187112948_187112968delinsAGTGCACCCCGCGGCCGCCA (hg19) chr4:g.186191793del (hg38) chr4:g.186191794_186191814delinsAGTGCACCCCGCGGCCGCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191794del , CM000666.2:g.186191794del GRCh38
NC_000004.11:g.187112948del , CM000666.1:g.187112948del GRCh37
NC_000004.10:g.187349942del NCBI36
NG_007965.1:g.5275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.-30del MANE Select ENSP00000368079.4:n.-30del
ENST00000378802.4:c.-30del ENSP00000368079.4:n.-30del
NM_207352.3:c.-30del NP_997235.3:n.-30del
XM_005262935.2:c.-30del XP_005262992.1:n.-30del
XM_005262935.4:c.-30del XP_005262992.1:n.-30del
XM_017008037.1:c.-340del XP_016863526.1:n.-340del
NM_207352.4:c.-30del MANE Select NP_997235.3:n.-30del
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