Canonical Allele Identifier: CA276932
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209986
ClinVar RCV Id: RCV000191926
dbSNP Id: rs797045181

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209263A>G , CM000666.2:g.186209263A>G GRCh38
NC_000004.11:g.187130417A>G , CM000666.1:g.187130417A>G GRCh37
NC_000004.10:g.187367411A>G NCBI36
NG_007965.1:g.22744A>G
NG_012095.2:g.5285A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1396A>G MANE Select ENSP00000368079.4:p.Asn466Asp
ENST00000378802.4:c.1396A>G ENSP00000368079.4:p.Asn466Asp
ENST00000502665.1:n.631A>G
ENST00000507209.5:n.6094A>G
ENST00000511608.5:n.192A>G
ENST00000513354.5:n.486A>G
NM_207352.3:c.1396A>G NP_997235.3:p.Asn466Asp
XM_005262935.2:c.1393A>G XP_005262992.1:p.Asn465Asp
XM_006714184.2:c.1000A>G XP_006714247.1:p.Asn334Asp
XM_005262935.4:c.1393A>G XP_005262992.1:p.Asn465Asp
XM_017008037.1:c.1000A>G XP_016863526.1:p.Asn334Asp
NM_207352.4:c.1396A>G MANE Select NP_997235.3:p.Asn466Asp