Canonical Allele Identifier: CA358948010
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715573
ClinVar RCV Id: RCV002301333

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199021A>T , CM000666.2:g.186199021A>T GRCh38
NC_000004.11:g.187120175A>T , CM000666.1:g.187120175A>T GRCh37
NC_000004.10:g.187357169A>T NCBI36
NG_007965.1:g.12502A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.739A>T MANE Select ENSP00000368079.4:p.Met247Leu
ENST00000378802.4:c.739A>T ENSP00000368079.4:p.Met247Leu
ENST00000507209.5:n.1580A>T
NM_207352.3:c.739A>T NP_997235.3:p.Met247Leu
XM_005262935.2:c.739A>T XP_005262992.1:p.Met247Leu
XM_006714184.2:c.343A>T XP_006714247.1:p.Met115Leu
XM_005262935.4:c.739A>T XP_005262992.1:p.Met247Leu
XM_017008037.1:c.343A>T XP_016863526.1:p.Met115Leu
NM_207352.4:c.739A>T MANE Select NP_997235.3:p.Met247Leu