Canonical Allele Identifier: CA442641004
Community Standard Title: NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205274A>G , CM000666.2:g.186205274A>G GRCh38
NC_000004.11:g.187126428A>G , CM000666.1:g.187126428A>G GRCh37
NC_000004.10:g.187363422A>G NCBI36
NG_007965.1:g.18755A>G
NG_012095.2:g.1296A>G

Transcript Alleles

HGVS Amino-acid Change
NM_207352.4:c.1062A>G MANE Select NP_997235.3:p.Lys354=
ENST00000378802.5:c.1062A>G MANE Select ENSP00000368079.4:p.Lys354=
NM_207352.3:c.1062A>G NP_997235.3:p.Lys354=
ENST00000378802.4:c.1062A>G ENSP00000368079.4:p.Lys354=
ENST00000502665.1:n.297A>G
ENST00000507209.5:n.5760A>G
ENST00000513354.5:n.152A>G
XM_005262935.2:c.1062A>G XP_005262992.1:p.Lys354=
XM_005262935.4:c.1062A>G XP_005262992.1:p.Lys354=
XM_006714184.2:c.666A>G XP_006714247.1:p.Lys222=
XM_017008037.1:c.666A>G XP_016863526.1:p.Lys222=