Canonical Allele Identifier: CA358950111

Gene: CYP4V2

Linked Data

• COSMIC: COSM6099777
• MyVariant Identifiers: chr4:g.187130045G>C (hg19) ; chr4:g.186208891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208891G>C , CM000666.2:g.186208891G>C	GRCh38
NC_000004.11:g.187130045G>C , CM000666.1:g.187130045G>C	GRCh37
NC_000004.10:g.187367039G>C	NCBI36
NG_007965.1:g.22372G>C
NG_012095.2:g.4913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1117G>C MANE Select	ENSP00000368079.4:p.Glu373Gln
ENST00000378802.4:c.1117G>C	ENSP00000368079.4:p.Glu373Gln
ENST00000502665.1:n.352G>C
ENST00000507209.5:n.5815G>C
ENST00000513354.5:n.207G>C
NM_207352.3:c.1117G>C	NP_997235.3:p.Glu373Gln
XM_005262935.2:c.1117G>C	XP_005262992.1:p.Glu373Gln
XM_006714184.2:c.721G>C	XP_006714247.1:p.Glu241Gln
XM_005262935.4:c.1117G>C	XP_005262992.1:p.Glu373Gln
XM_017008037.1:c.721G>C	XP_016863526.1:p.Glu241Gln
NM_207352.4:c.1117G>C MANE Select	NP_997235.3:p.Glu373Gln