Canonical Allele Identifier: CA792317556
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1316699766
gnomAD v3: 4-186194220-GT-G
gnomAD v4: 4-186194220-GT-G
MyVariant Identifiers: chr4:g.187115375del (hg19) chr4:g.186194221del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194222del , CM000666.2:g.186194222del GRCh38
NC_000004.11:g.187115376del , CM000666.1:g.187115376del GRCh37
NC_000004.10:g.187352370del NCBI36
NG_007965.1:g.7703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.215-278del MANE Select ENSP00000368079.4:n.215-278del
ENST00000378802.4:c.215-278del ENSP00000368079.4:n.215-278del
NM_207352.3:c.215-278del NP_997235.3:n.215-278del
XM_005262935.2:c.215-278del XP_005262992.1:n.215-278del
XM_005262935.4:c.215-278del XP_005262992.1:n.215-278del
XM_017008037.1:c.-96-278del XP_016863526.1:n.-96-278del
NM_207352.4:c.215-278del MANE Select NP_997235.3:n.215-278del
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