Canonical Allele Identifier: CA358950273
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208970C>G , CM000666.2:g.186208970C>G GRCh38
NC_000004.11:g.187130124C>G , CM000666.1:g.187130124C>G GRCh37
NC_000004.10:g.187367118C>G NCBI36
NG_007965.1:g.22451C>G
NG_012095.2:g.4992C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1196C>G MANE Select ENSP00000368079.4:p.Ala399Gly
ENST00000378802.4:c.1196C>G ENSP00000368079.4:p.Ala399Gly
ENST00000502665.1:n.431C>G
ENST00000507209.5:n.5894C>G
ENST00000513354.5:n.286C>G
NM_207352.3:c.1196C>G NP_997235.3:p.Ala399Gly
XM_005262935.2:c.1196C>G XP_005262992.1:p.Ala399Gly
XM_006714184.2:c.800C>G XP_006714247.1:p.Ala267Gly
XM_005262935.4:c.1196C>G XP_005262992.1:p.Ala399Gly
XM_017008037.1:c.800C>G XP_016863526.1:p.Ala267Gly
NM_207352.4:c.1196C>G MANE Select NP_997235.3:p.Ala399Gly