Canonical Allele Identifier: CA358946915
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194554T>A , CM000666.2:g.186194554T>A GRCh38
NC_000004.11:g.187115708T>A , CM000666.1:g.187115708T>A GRCh37
NC_000004.10:g.187352702T>A NCBI36
NG_007965.1:g.8035T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.269T>A MANE Select ENSP00000368079.4:p.Leu90Gln
ENST00000378802.4:c.269T>A ENSP00000368079.4:p.Leu90Gln
NM_207352.3:c.269T>A NP_997235.3:p.Leu90Gln
XM_005262935.2:c.269T>A XP_005262992.1:p.Leu90Gln
XM_006714184.2:c.-42T>A XP_006714247.1:n.-42T>A
XM_005262935.4:c.269T>A XP_005262992.1:p.Leu90Gln
XM_017008037.1:c.-42T>A XP_016863526.1:n.-42T>A
NM_207352.4:c.269T>A MANE Select NP_997235.3:p.Leu90Gln