Canonical Allele Identifier: CA557053843

Gene: CYP4V2

Linked Data

• dbSNP Id: rs199476192
• gnomAD v2: 4-187120193-GA-G
• gnomAD v4: 4-186199039-GA-G
• MyVariant Identifiers: chr4:g.187120194del (hg19) ; chr4:g.186199040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186199041del , CM000666.2:g.186199041del	GRCh38
NC_000004.11:g.187120195del , CM000666.1:g.187120195del	GRCh37
NC_000004.10:g.187357189del	NCBI36
NG_007965.1:g.12522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.759del MANE Select	ENSP00000368079.4:p.Glu253AspfsTer24
ENST00000378802.4:c.759del	ENSP00000368079.4:p.Glu253AspfsTer24
ENST00000507209.5:n.1600del
NM_207352.3:c.759del	NP_997235.3:p.Glu253AspfsTer24
XM_005262935.2:c.759del	XP_005262992.1:p.Glu253AspfsTer24
XM_006714184.2:c.363del	XP_006714247.1:p.Glu121AspfsTer24
XM_005262935.4:c.759del	XP_005262992.1:p.Glu253AspfsTer24
XM_017008037.1:c.363del	XP_016863526.1:p.Glu121AspfsTer24
NM_207352.4:c.759del MANE Select	NP_997235.3:p.Glu253AspfsTer24