Canonical Allele Identifier: CA358948053

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1480754571
• gnomAD v4: 4-186199038-G-A
• MyVariant Identifiers: chr4:g.187120192G>A (hg19) ; chr4:g.186199038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186199038G>A , CM000666.2:g.186199038G>A	GRCh38
NC_000004.11:g.187120192G>A , CM000666.1:g.187120192G>A	GRCh37
NC_000004.10:g.187357186G>A	NCBI36
NG_007965.1:g.12519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.756G>A MANE Select	ENSP00000368079.4:p.Trp252Ter
ENST00000378802.4:c.756G>A	ENSP00000368079.4:p.Trp252Ter
ENST00000507209.5:n.1597G>A
NM_207352.3:c.756G>A	NP_997235.3:p.Trp252Ter
XM_005262935.2:c.756G>A	XP_005262992.1:p.Trp252Ter
XM_006714184.2:c.360G>A	XP_006714247.1:p.Trp120Ter
XM_005262935.4:c.756G>A	XP_005262992.1:p.Trp252Ter
XM_017008037.1:c.360G>A	XP_016863526.1:p.Trp120Ter
NM_207352.4:c.756G>A MANE Select	NP_997235.3:p.Trp252Ter