Canonical Allele Identifier: CA358950109
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208889T>C , CM000666.2:g.186208889T>C GRCh38
NC_000004.11:g.187130043T>C , CM000666.1:g.187130043T>C GRCh37
NC_000004.10:g.187367037T>C NCBI36
NG_007965.1:g.22370T>C
NG_012095.2:g.4911T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1115T>C MANE Select ENSP00000368079.4:p.Val372Ala
ENST00000378802.4:c.1115T>C ENSP00000368079.4:p.Val372Ala
ENST00000502665.1:n.350T>C
ENST00000507209.5:n.5813T>C
ENST00000513354.5:n.205T>C
NM_207352.3:c.1115T>C NP_997235.3:p.Val372Ala
XM_005262935.2:c.1115T>C XP_005262992.1:p.Val372Ala
XM_006714184.2:c.719T>C XP_006714247.1:p.Val240Ala
XM_005262935.4:c.1115T>C XP_005262992.1:p.Val372Ala
XM_017008037.1:c.719T>C XP_016863526.1:p.Val240Ala
NM_207352.4:c.1115T>C MANE Select NP_997235.3:p.Val372Ala