Canonical Allele Identifier: CA358950226

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187130100T>G (hg19) ; chr4:g.186208946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208946T>G , CM000666.2:g.186208946T>G	GRCh38
NC_000004.11:g.187130100T>G , CM000666.1:g.187130100T>G	GRCh37
NC_000004.10:g.187367094T>G	NCBI36
NG_007965.1:g.22427T>G
NG_012095.2:g.4968T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1172T>G MANE Select	ENSP00000368079.4:p.Leu391Arg
ENST00000378802.4:c.1172T>G	ENSP00000368079.4:p.Leu391Arg
ENST00000502665.1:n.407T>G
ENST00000507209.5:n.5870T>G
ENST00000513354.5:n.262T>G
NM_207352.3:c.1172T>G	NP_997235.3:p.Leu391Arg
XM_005262935.2:c.1172T>G	XP_005262992.1:p.Leu391Arg
XM_006714184.2:c.776T>G	XP_006714247.1:p.Leu259Arg
XM_005262935.4:c.1172T>G	XP_005262992.1:p.Leu391Arg
XM_017008037.1:c.776T>G	XP_016863526.1:p.Leu259Arg
NM_207352.4:c.1172T>G MANE Select	NP_997235.3:p.Leu391Arg