Canonical Allele Identifier: CA358950222

Gene: CYP4V2

Linked Data

• COSMIC: COSM5518565
• MyVariant Identifiers: chr4:g.187130099C>A (hg19) ; chr4:g.186208945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208945C>A , CM000666.2:g.186208945C>A	GRCh38
NC_000004.11:g.187130099C>A , CM000666.1:g.187130099C>A	GRCh37
NC_000004.10:g.187367093C>A	NCBI36
NG_007965.1:g.22426C>A
NG_012095.2:g.4967C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1171C>A MANE Select	ENSP00000368079.4:p.Leu391Ile
ENST00000378802.4:c.1171C>A	ENSP00000368079.4:p.Leu391Ile
ENST00000502665.1:n.406C>A
ENST00000507209.5:n.5869C>A
ENST00000513354.5:n.261C>A
NM_207352.3:c.1171C>A	NP_997235.3:p.Leu391Ile
XM_005262935.2:c.1171C>A	XP_005262992.1:p.Leu391Ile
XM_006714184.2:c.775C>A	XP_006714247.1:p.Leu259Ile
XM_005262935.4:c.1171C>A	XP_005262992.1:p.Leu391Ile
XM_017008037.1:c.775C>A	XP_016863526.1:p.Leu259Ile
NM_207352.4:c.1171C>A MANE Select	NP_997235.3:p.Leu391Ile