Canonical Allele Identifier: CA112131323

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1047333268
• gnomAD v3: 4-186204887-CTT-C
• gnomAD v4: 4-186204887-CTT-C
• MyVariant Identifiers: chr4:g.187126042_187126043del (hg19) ; chr4:g.186204888_186204889del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204889_186204890del , CM000666.2:g.186204889_186204890del	GRCh38
NC_000004.11:g.187126043_187126044del , CM000666.1:g.187126043_187126044del	GRCh37
NC_000004.10:g.187363037_187363038del	NCBI36
NG_007965.1:g.18370_18371del
NG_012095.2:g.911_912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-311_988-310del MANE Select	ENSP00000368079.4:n.988-311_988-310del
ENST00000378802.4:c.988-311_988-310del	ENSP00000368079.4:n.988-311_988-310del
ENST00000502665.1:n.53_54del
ENST00000507209.5:n.5375_5376del
ENST00000513354.5:n.78-311_78-310del
NM_207352.3:c.988-311_988-310del	NP_997235.3:n.988-311_988-310del
XM_005262935.2:c.988-311_988-310del	XP_005262992.1:n.988-311_988-310del
XM_006714184.2:c.592-311_592-310del	XP_006714247.1:n.592-311_592-310del
XM_005262935.4:c.988-311_988-310del	XP_005262992.1:n.988-311_988-310del
XM_017008037.1:c.592-311_592-310del	XP_016863526.1:n.592-311_592-310del
NM_207352.4:c.988-311_988-310del MANE Select	NP_997235.3:n.988-311_988-310del