Canonical Allele Identifier: CA358949328
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205242C>A , CM000666.2:g.186205242C>A GRCh38
NC_000004.11:g.187126396C>A , CM000666.1:g.187126396C>A GRCh37
NC_000004.10:g.187363390C>A NCBI36
NG_007965.1:g.18723C>A
NG_012095.2:g.1264C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1030C>A MANE Select ENSP00000368079.4:p.Leu344Met
ENST00000378802.4:c.1030C>A ENSP00000368079.4:p.Leu344Met
ENST00000502665.1:n.265C>A
ENST00000507209.5:n.5728C>A
ENST00000513354.5:n.120C>A
NM_207352.3:c.1030C>A NP_997235.3:p.Leu344Met
XM_005262935.2:c.1030C>A XP_005262992.1:p.Leu344Met
XM_006714184.2:c.634C>A XP_006714247.1:p.Leu212Met
XM_005262935.4:c.1030C>A XP_005262992.1:p.Leu344Met
XM_017008037.1:c.634C>A XP_016863526.1:p.Leu212Met
NM_207352.4:c.1030C>A MANE Select NP_997235.3:p.Leu344Met