Canonical Allele Identifier: CA1071991801

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1736452198
• gnomAD v3: 4-186204945-AAC-A
• gnomAD v4: 4-186204945-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204949_186204950del , CM000666.2:g.186204949_186204950del	GRCh38
NC_000004.11:g.187126103_187126104del , CM000666.1:g.187126103_187126104del	GRCh37
NC_000004.10:g.187363097_187363098del	NCBI36
NG_007965.1:g.18430_18431del
NG_012095.2:g.971_972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-251_988-250del MANE Select	ENSP00000368079.4:n.988-251_988-250del
ENST00000378802.4:c.988-251_988-250del	ENSP00000368079.4:n.988-251_988-250del
ENST00000502665.1:n.113_114del
ENST00000507209.5:n.5435_5436del
ENST00000513354.5:n.78-251_78-250del
NM_207352.3:c.988-251_988-250del	NP_997235.3:n.988-251_988-250del
XM_005262935.2:c.988-251_988-250del	XP_005262992.1:n.988-251_988-250del
XM_006714184.2:c.592-251_592-250del	XP_006714247.1:n.592-251_592-250del
XM_005262935.4:c.988-251_988-250del	XP_005262992.1:n.988-251_988-250del
XM_017008037.1:c.592-251_592-250del	XP_016863526.1:n.592-251_592-250del
NM_207352.4:c.988-251_988-250del MANE Select	NP_997235.3:n.988-251_988-250del