Canonical Allele Identifier: CA3162763

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 900664
• ClinVar RCV Id: RCV002032372 ; RCV002557124
• dbSNP Id: rs138739819
• ExAC: 4:187130031 G / A
• gnomAD v2: 4-187130031-G-A
• gnomAD v3: 4-186208877-G-A
• gnomAD v4: 4-186208877-G-A
• COSMIC: COSM733876
• MyVariant Identifiers: chr4:g.187130031G>A (hg19) ; chr4:g.186208877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208877G>A , CM000666.2:g.186208877G>A	GRCh38
NC_000004.11:g.187130031G>A , CM000666.1:g.187130031G>A	GRCh37
NC_000004.10:g.187367025G>A	NCBI36
NG_007965.1:g.22358G>A
NG_012095.2:g.4899G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1103G>A MANE Select	ENSP00000368079.4:p.Arg368His
ENST00000378802.4:c.1103G>A	ENSP00000368079.4:p.Arg368His
ENST00000502665.1:n.338G>A
ENST00000507209.5:n.5801G>A
ENST00000513354.5:n.193G>A
NM_207352.3:c.1103G>A	NP_997235.3:p.Arg368His
XM_005262935.2:c.1103G>A	XP_005262992.1:p.Arg368His
XM_006714184.2:c.707G>A	XP_006714247.1:p.Arg236His
XM_005262935.4:c.1103G>A	XP_005262992.1:p.Arg368His
XM_017008037.1:c.707G>A	XP_016863526.1:p.Arg236His
NM_207352.4:c.1103G>A MANE Select	NP_997235.3:p.Arg368His