Canonical Allele Identifier: CA358949354
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205249G>T , CM000666.2:g.186205249G>T GRCh38
NC_000004.11:g.187126403G>T , CM000666.1:g.187126403G>T GRCh37
NC_000004.10:g.187363397G>T NCBI36
NG_007965.1:g.18730G>T
NG_012095.2:g.1271G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1037G>T MANE Select ENSP00000368079.4:p.Gly346Val
ENST00000378802.4:c.1037G>T ENSP00000368079.4:p.Gly346Val
ENST00000502665.1:n.272G>T
ENST00000507209.5:n.5735G>T
ENST00000513354.5:n.127G>T
NM_207352.3:c.1037G>T NP_997235.3:p.Gly346Val
XM_005262935.2:c.1037G>T XP_005262992.1:p.Gly346Val
XM_006714184.2:c.641G>T XP_006714247.1:p.Gly214Val
XM_005262935.4:c.1037G>T XP_005262992.1:p.Gly346Val
XM_017008037.1:c.641G>T XP_016863526.1:p.Gly214Val
NM_207352.4:c.1037G>T MANE Select NP_997235.3:p.Gly346Val