Canonical Allele Identifier: CA358950238
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208951C>T , CM000666.2:g.186208951C>T GRCh38
NC_000004.11:g.187130105C>T , CM000666.1:g.187130105C>T GRCh37
NC_000004.10:g.187367099C>T NCBI36
NG_007965.1:g.22432C>T
NG_012095.2:g.4973C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1177C>T MANE Select ENSP00000368079.4:p.Pro393Ser
ENST00000378802.4:c.1177C>T ENSP00000368079.4:p.Pro393Ser
ENST00000502665.1:n.412C>T
ENST00000507209.5:n.5875C>T
ENST00000513354.5:n.267C>T
NM_207352.3:c.1177C>T NP_997235.3:p.Pro393Ser
XM_005262935.2:c.1177C>T XP_005262992.1:p.Pro393Ser
XM_006714184.2:c.781C>T XP_006714247.1:p.Pro261Ser
XM_005262935.4:c.1177C>T XP_005262992.1:p.Pro393Ser
XM_017008037.1:c.781C>T XP_016863526.1:p.Pro261Ser
NM_207352.4:c.1177C>T MANE Select NP_997235.3:p.Pro393Ser