Canonical Allele Identifier: CA358950711
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209268T>G , CM000666.2:g.186209268T>G GRCh38
NC_000004.11:g.187130422T>G , CM000666.1:g.187130422T>G GRCh37
NC_000004.10:g.187367416T>G NCBI36
NG_007965.1:g.22749T>G
NG_012095.2:g.5290T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1401T>G MANE Select ENSP00000368079.4:p.Cys467Trp
ENST00000378802.4:c.1401T>G ENSP00000368079.4:p.Cys467Trp
ENST00000502665.1:n.636T>G
ENST00000507209.5:n.6099T>G
ENST00000511608.5:n.197T>G
ENST00000513354.5:n.491T>G
NM_207352.3:c.1401T>G NP_997235.3:p.Cys467Trp
XM_005262935.2:c.1398T>G XP_005262992.1:p.Cys466Trp
XM_006714184.2:c.1005T>G XP_006714247.1:p.Cys335Trp
XM_005262935.4:c.1398T>G XP_005262992.1:p.Cys466Trp
XM_017008037.1:c.1005T>G XP_016863526.1:p.Cys335Trp
NM_207352.4:c.1401T>G MANE Select NP_997235.3:p.Cys467Trp