Canonical Allele Identifier: CA792325105

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1362780913
• gnomAD v3: 4-186204741-GGTT-G
• gnomAD v4: 4-186204741-GGTT-G
• MyVariant Identifiers: chr4:g.187125896_187125898del (hg19) ; chr4:g.186204742_186204744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204747_186204749del , CM000666.2:g.186204747_186204749del	GRCh38
NC_000004.11:g.187125901_187125903del , CM000666.1:g.187125901_187125903del	GRCh37
NC_000004.10:g.187362895_187362897del	NCBI36
NG_007965.1:g.18228_18230del
NG_012095.2:g.769_771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-453_988-451del MANE Select	ENSP00000368079.4:n.988-453_988-451del
ENST00000378802.4:c.988-453_988-451del	ENSP00000368079.4:n.988-453_988-451del
ENST00000507209.5:n.5233_5235del
ENST00000513354.5:n.77+290_77+292del
NM_207352.3:c.988-453_988-451del	NP_997235.3:n.988-453_988-451del
XM_005262935.2:c.988-453_988-451del	XP_005262992.1:n.988-453_988-451del
XM_006714184.2:c.592-453_592-451del	XP_006714247.1:n.592-453_592-451del
XM_005262935.4:c.988-453_988-451del	XP_005262992.1:n.988-453_988-451del
XM_017008037.1:c.592-453_592-451del	XP_016863526.1:n.592-453_592-451del
NM_207352.4:c.988-453_988-451del MANE Select	NP_997235.3:n.988-453_988-451del