Canonical Allele Identifier: CA358950237
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1177C>G MANE Select ENSP00000368079.4:p.Pro393Ala
ENST00000378802.4:c.1177C>G ENSP00000368079.4:p.Pro393Ala
ENST00000502665.1:n.412C>G
ENST00000507209.5:n.5875C>G
ENST00000513354.5:n.267C>G
NM_207352.3:c.1177C>G NP_997235.3:p.Pro393Ala
XM_005262935.2:c.1177C>G XP_005262992.1:p.Pro393Ala
XM_006714184.2:c.781C>G XP_006714247.1:p.Pro261Ala
XM_005262935.4:c.1177C>G XP_005262992.1:p.Pro393Ala
XM_017008037.1:c.781C>G XP_016863526.1:p.Pro261Ala
NM_207352.4:c.1177C>G MANE Select NP_997235.3:p.Pro393Ala