Canonical Allele Identifier: CA343717
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39256
ClinVar RCV Id: RCV000032533
dbSNP Id: rs199476204

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209215C>T , CM000666.2:g.186209215C>T GRCh38
NC_000004.11:g.187130369C>T , CM000666.1:g.187130369C>T GRCh37
NC_000004.10:g.187367363C>T NCBI36
NG_007965.1:g.22696C>T
NG_012095.2:g.5237C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1348C>T MANE Select ENSP00000368079.4:p.Gln450Ter
ENST00000378802.4:c.1348C>T ENSP00000368079.4:p.Gln450Ter
ENST00000502665.1:n.583C>T
ENST00000507209.5:n.6046C>T
ENST00000511608.5:n.144C>T
ENST00000513354.5:n.438C>T
NM_207352.3:c.1348C>T NP_997235.3:p.Gln450Ter
XM_005262935.2:c.1345C>T XP_005262992.1:p.Gln449Ter
XM_006714184.2:c.952C>T XP_006714247.1:p.Gln318Ter
XM_005262935.4:c.1345C>T XP_005262992.1:p.Gln449Ter
XM_017008037.1:c.952C>T XP_016863526.1:p.Gln318Ter
NM_207352.4:c.1348C>T MANE Select NP_997235.3:p.Gln450Ter