Canonical Allele Identifier: CA792325258

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1223725463
• gnomAD v3: 4-186205006-AG-A
• gnomAD v4: 4-186205006-AG-A
• MyVariant Identifiers: chr4:g.187126161del (hg19) ; chr4:g.186205007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205008del , CM000666.2:g.186205008del	GRCh38
NC_000004.11:g.187126162del , CM000666.1:g.187126162del	GRCh37
NC_000004.10:g.187363156del	NCBI36
NG_007965.1:g.18489del
NG_012095.2:g.1030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-192del MANE Select	ENSP00000368079.4:n.988-192del
ENST00000378802.4:c.988-192del	ENSP00000368079.4:n.988-192del
ENST00000502665.1:n.172del
ENST00000507209.5:n.5494del
ENST00000513354.5:n.78-192del
NM_207352.3:c.988-192del	NP_997235.3:n.988-192del
XM_005262935.2:c.988-192del	XP_005262992.1:n.988-192del
XM_006714184.2:c.592-192del	XP_006714247.1:n.592-192del
XM_005262935.4:c.988-192del	XP_005262992.1:n.988-192del
XM_017008037.1:c.592-192del	XP_016863526.1:n.592-192del
NM_207352.4:c.988-192del MANE Select	NP_997235.3:n.988-192del