Canonical Allele Identifier: CA358950241

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187130106C>A (hg19) ; chr4:g.186208952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208952C>A , CM000666.2:g.186208952C>A	GRCh38
NC_000004.11:g.187130106C>A , CM000666.1:g.187130106C>A	GRCh37
NC_000004.10:g.187367100C>A	NCBI36
NG_007965.1:g.22433C>A
NG_012095.2:g.4974C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1178C>A MANE Select	ENSP00000368079.4:p.Pro393His
ENST00000378802.4:c.1178C>A	ENSP00000368079.4:p.Pro393His
ENST00000502665.1:n.413C>A
ENST00000507209.5:n.5876C>A
ENST00000513354.5:n.268C>A
NM_207352.3:c.1178C>A	NP_997235.3:p.Pro393His
XM_005262935.2:c.1178C>A	XP_005262992.1:p.Pro393His
XM_006714184.2:c.782C>A	XP_006714247.1:p.Pro261His
XM_005262935.4:c.1178C>A	XP_005262992.1:p.Pro393His
XM_017008037.1:c.782C>A	XP_016863526.1:p.Pro261His
NM_207352.4:c.1178C>A MANE Select	NP_997235.3:p.Pro393His