Canonical Allele Identifier: CA358946816
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194510G>T , CM000666.2:g.186194510G>T GRCh38
NC_000004.11:g.187115664G>T , CM000666.1:g.187115664G>T GRCh37
NC_000004.10:g.187352658G>T NCBI36
NG_007965.1:g.7991G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.225G>T MANE Select ENSP00000368079.4:p.Gln75His
ENST00000378802.4:c.225G>T ENSP00000368079.4:p.Gln75His
NM_207352.3:c.225G>T NP_997235.3:p.Gln75His
XM_005262935.2:c.225G>T XP_005262992.1:p.Gln75His
XM_005262935.4:c.225G>T XP_005262992.1:p.Gln75His
XM_017008037.1:c.-86G>T XP_016863526.1:n.-86G>T
NM_207352.4:c.225G>T MANE Select NP_997235.3:p.Gln75His