Canonical Allele Identifier: CA915943411

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 812305
• ClinVar RCV Id: RCV001003004
• dbSNP Id: rs1579976512
• gnomAD v4: 4-186208895-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208897del , CM000666.2:g.186208897del	GRCh38
NC_000004.11:g.187130051del , CM000666.1:g.187130051del	GRCh37
NC_000004.10:g.187367045del	NCBI36
NG_007965.1:g.22378del
NG_012095.2:g.4919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1123del MANE Select	ENSP00000368079.4:p.Leu375Ter
ENST00000378802.4:c.1123del	ENSP00000368079.4:p.Leu375Ter
ENST00000502665.1:n.358del
ENST00000507209.5:n.5821del
ENST00000513354.5:n.213del
NM_207352.3:c.1123del	NP_997235.3:p.Leu375Ter
XM_005262935.2:c.1123del	XP_005262992.1:p.Leu375Ter
XM_006714184.2:c.727del	XP_006714247.1:p.Leu243Ter
XM_005262935.4:c.1123del	XP_005262992.1:p.Leu375Ter
XM_017008037.1:c.727del	XP_016863526.1:p.Leu243Ter
NM_207352.4:c.1123del MANE Select	NP_997235.3:p.Leu375Ter