Canonical Allele Identifier: CA358946927
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194560T>A , CM000666.2:g.186194560T>A GRCh38
NC_000004.11:g.187115714T>A , CM000666.1:g.187115714T>A GRCh37
NC_000004.10:g.187352708T>A NCBI36
NG_007965.1:g.8041T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.275T>A MANE Select ENSP00000368079.4:p.Leu92His
ENST00000378802.4:c.275T>A ENSP00000368079.4:p.Leu92His
NM_207352.3:c.275T>A NP_997235.3:p.Leu92His
XM_005262935.2:c.275T>A XP_005262992.1:p.Leu92His
XM_006714184.2:c.-36T>A XP_006714247.1:n.-36T>A
XM_005262935.4:c.275T>A XP_005262992.1:p.Leu92His
XM_017008037.1:c.-36T>A XP_016863526.1:n.-36T>A
NM_207352.4:c.275T>A MANE Select NP_997235.3:p.Leu92His