Canonical Allele Identifier: CA358947637
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197113C>T , CM000666.2:g.186197113C>T GRCh38
NC_000004.11:g.187118267C>T , CM000666.1:g.187118267C>T GRCh37
NC_000004.10:g.187355261C>T NCBI36
NG_007965.1:g.10594C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.587C>T MANE Select ENSP00000368079.4:p.Ala196Val
ENST00000378802.4:c.587C>T ENSP00000368079.4:p.Ala196Val
ENST00000507209.5:n.1026C>T
NM_207352.3:c.587C>T NP_997235.3:p.Ala196Val
XM_005262935.2:c.587C>T XP_005262992.1:p.Ala196Val
XM_006714184.2:c.191C>T XP_006714247.1:p.Ala64Val
XM_005262935.4:c.587C>T XP_005262992.1:p.Ala196Val
XM_017008037.1:c.191C>T XP_016863526.1:p.Ala64Val
NM_207352.4:c.587C>T MANE Select NP_997235.3:p.Ala196Val