Canonical Allele Identifier: CA112131513

Gene: CYP4V2

Linked Data

• dbSNP Id: rs878924475
• gnomAD v3: 4-186205098-TGCA-T
• gnomAD v4: 4-186205098-TGCA-T
• MyVariant Identifiers: chr4:g.187126253_187126255del (hg19) ; chr4:g.186205099_186205101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205100_186205102del , CM000666.2:g.186205100_186205102del	GRCh38
NC_000004.11:g.187126254_187126256del , CM000666.1:g.187126254_187126256del	GRCh37
NC_000004.10:g.187363248_187363250del	NCBI36
NG_007965.1:g.18581_18583del
NG_012095.2:g.1122_1124del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-100_988-98del MANE Select	ENSP00000368079.4:n.988-100_988-98del
ENST00000378802.4:c.988-100_988-98del	ENSP00000368079.4:n.988-100_988-98del
ENST00000502665.1:n.222+42_222+44del
ENST00000507209.5:n.5586_5588del
ENST00000513354.5:n.78-100_78-98del
NM_207352.3:c.988-100_988-98del	NP_997235.3:n.988-100_988-98del
XM_005262935.2:c.988-100_988-98del	XP_005262992.1:n.988-100_988-98del
XM_006714184.2:c.592-100_592-98del	XP_006714247.1:n.592-100_592-98del
XM_005262935.4:c.988-100_988-98del	XP_005262992.1:n.988-100_988-98del
XM_017008037.1:c.592-100_592-98del	XP_016863526.1:n.592-100_592-98del
NM_207352.4:c.988-100_988-98del MANE Select	NP_997235.3:n.988-100_988-98del