Canonical Allele Identifier: CA343743
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39273
ClinVar RCV Id: RCV000032550
dbSNP Id: rs199476195

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186201326A>T , CM000666.2:g.186201326A>T GRCh38
NC_000004.11:g.187122480A>T , CM000666.1:g.187122480A>T GRCh37
NC_000004.10:g.187359474A>T NCBI36
NG_007965.1:g.14807A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.971A>T MANE Select ENSP00000368079.4:p.Asp324Val
ENST00000378802.4:c.971A>T ENSP00000368079.4:p.Asp324Val
ENST00000507209.5:n.1812A>T
NM_207352.3:c.971A>T NP_997235.3:p.Asp324Val
XM_005262935.2:c.971A>T XP_005262992.1:p.Asp324Val
XM_006714184.2:c.575A>T XP_006714247.1:p.Asp192Val
XM_005262935.4:c.971A>T XP_005262992.1:p.Asp324Val
XM_017008037.1:c.575A>T XP_016863526.1:p.Asp192Val
NM_207352.4:c.971A>T MANE Select NP_997235.3:p.Asp324Val