Canonical Allele Identifier: CA358949926

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 2340714
• ClinVar RCV Id: RCV002950656
• MyVariant Identifiers: chr4:g.187130040C>T (hg19) ; chr4:g.186208886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208886C>T , CM000666.2:g.186208886C>T	GRCh38
NC_000004.11:g.187130040C>T , CM000666.1:g.187130040C>T	GRCh37
NC_000004.10:g.187367034C>T	NCBI36
NG_007965.1:g.22367C>T
NG_012095.2:g.4908C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1112C>T MANE Select	ENSP00000368079.4:p.Thr371Ile
ENST00000378802.4:c.1112C>T	ENSP00000368079.4:p.Thr371Ile
ENST00000502665.1:n.347C>T
ENST00000507209.5:n.5810C>T
ENST00000513354.5:n.202C>T
NM_207352.3:c.1112C>T	NP_997235.3:p.Thr371Ile
XM_005262935.2:c.1112C>T	XP_005262992.1:p.Thr371Ile
XM_006714184.2:c.716C>T	XP_006714247.1:p.Thr239Ile
XM_005262935.4:c.1112C>T	XP_005262992.1:p.Thr371Ile
XM_017008037.1:c.716C>T	XP_016863526.1:p.Thr239Ile
NM_207352.4:c.1112C>T MANE Select	NP_997235.3:p.Thr371Ile