Canonical Allele Identifier: CA3162754
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1925380
ClinVar RCV Id: RCV002618209
dbSNP Id: rs759808993

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208851C>T , CM000666.2:g.186208851C>T GRCh38
NC_000004.11:g.187130005C>T , CM000666.1:g.187130005C>T GRCh37
NC_000004.10:g.187366999C>T NCBI36
NG_007965.1:g.22332C>T
NG_012095.2:g.4873C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1091-14C>T MANE Select ENSP00000368079.4:n.1091-14C>T
ENST00000378802.4:c.1091-14C>T ENSP00000368079.4:n.1091-14C>T
ENST00000502665.1:n.326-14C>T
ENST00000507209.5:n.5789-14C>T
ENST00000513354.5:n.181-14C>T
NM_207352.3:c.1091-14C>T NP_997235.3:n.1091-14C>T
XM_005262935.2:c.1091-14C>T XP_005262992.1:n.1091-14C>T
XM_006714184.2:c.695-14C>T XP_006714247.1:n.695-14C>T
XM_005262935.4:c.1091-14C>T XP_005262992.1:n.1091-14C>T
XM_017008037.1:c.695-14C>T XP_016863526.1:n.695-14C>T
NM_207352.4:c.1091-14C>T MANE Select NP_997235.3:n.1091-14C>T