Canonical Allele Identifier: CA358947549

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1456652
• ClinVar RCV Id: RCV001946933
• dbSNP Id: rs2126585037
• MyVariant Identifiers: chr4:g.187118230G>T (hg19) ; chr4:g.186197076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197076G>T , CM000666.2:g.186197076G>T	GRCh38
NC_000004.11:g.187118230G>T , CM000666.1:g.187118230G>T	GRCh37
NC_000004.10:g.187355224G>T	NCBI36
NG_007965.1:g.10557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.550G>T MANE Select	ENSP00000368079.4:p.Glu184Ter
ENST00000378802.4:c.550G>T	ENSP00000368079.4:p.Glu184Ter
ENST00000507209.5:n.989G>T
NM_207352.3:c.550G>T	NP_997235.3:p.Glu184Ter
XM_005262935.2:c.550G>T	XP_005262992.1:p.Glu184Ter
XM_006714184.2:c.154G>T	XP_006714247.1:p.Glu52Ter
XM_005262935.4:c.550G>T	XP_005262992.1:p.Glu184Ter
XM_017008037.1:c.154G>T	XP_016863526.1:p.Glu52Ter
NM_207352.4:c.550G>T MANE Select	NP_997235.3:p.Glu184Ter