Canonical Allele Identifier: CA2672897235
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208738T>C , CM000666.2:g.186208738T>C GRCh38
NC_000004.11:g.187129892T>C , CM000666.1:g.187129892T>C GRCh37
NC_000004.10:g.187366886T>C NCBI36
NG_007965.1:g.22219T>C
NG_012095.2:g.4760T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1091-127T>C MANE Select ENSP00000368079.4:n.1091-127T>C
ENST00000378802.4:c.1091-127T>C ENSP00000368079.4:n.1091-127T>C
ENST00000502665.1:n.326-127T>C
ENST00000507209.5:n.5789-127T>C
ENST00000513354.5:n.181-127T>C
NM_207352.3:c.1091-127T>C NP_997235.3:n.1091-127T>C
XM_005262935.2:c.1091-127T>C XP_005262992.1:n.1091-127T>C
XM_006714184.2:c.695-127T>C XP_006714247.1:n.695-127T>C
XM_005262935.4:c.1091-127T>C XP_005262992.1:n.1091-127T>C
XM_017008037.1:c.695-127T>C XP_016863526.1:n.695-127T>C
NM_207352.4:c.1091-127T>C MANE Select NP_997235.3:n.1091-127T>C