Canonical Allele Identifier: CA358948104
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199059G>C , CM000666.2:g.186199059G>C GRCh38
NC_000004.11:g.187120213G>C , CM000666.1:g.187120213G>C GRCh37
NC_000004.10:g.187357207G>C NCBI36
NG_007965.1:g.12540G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.777G>C MANE Select ENSP00000368079.4:p.Gln259His
ENST00000378802.4:c.777G>C ENSP00000368079.4:p.Gln259His
ENST00000507209.5:n.1618G>C
NM_207352.3:c.777G>C NP_997235.3:p.Gln259His
XM_005262935.2:c.777G>C XP_005262992.1:p.Gln259His
XM_006714184.2:c.381G>C XP_006714247.1:p.Gln127His
XM_005262935.4:c.777G>C XP_005262992.1:p.Gln259His
XM_017008037.1:c.381G>C XP_016863526.1:p.Gln127His
NM_207352.4:c.777G>C MANE Select NP_997235.3:p.Gln259His