Canonical Allele Identifier: CA3162758

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 348309
• ClinVar RCV Id: RCV000339797 ; RCV000391112 ; RCV000968046
• dbSNP Id: rs61748269
• ExAC: 4:187130015 T / A
• gnomAD: 4:187130015 T / A
• MyVariant Identifiers: chr4:g.187130015T>A (hg19) ; chr4:g.186208861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208861T>A , CM000666.2:g.186208861T>A	GRCh38
NC_000004.11:g.187130015T>A , CM000666.1:g.187130015T>A	GRCh37
NC_000004.10:g.187367009T>A	NCBI36
NG_007965.1:g.22342T>A
NG_012095.2:g.4883T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1091-4T>A MANE Select	ENSP00000368079.4:p.=
ENST00000378802.4:c.1091-4T>A	ENSP00000368079.4:p.=
ENST00000502665.1:n.326-4T>A
ENST00000507209.5:n.5789-4T>A
ENST00000513354.5:n.181-4T>A
NM_207352.3:c.1091-4T>A	NP_997235.3:p.=
XM_005262935.2:c.1091-4T>A	XP_005262992.1:p.=
XM_006714184.2:c.695-4T>A	XP_006714247.1:p.=
XM_005262935.4:c.1091-4T>A	XP_005262992.1:p.=
XM_017008037.1:c.695-4T>A	XP_016863526.1:p.=
NM_207352.4:c.1091-4T>A MANE Select	NP_997235.3:p.=