Canonical Allele Identifier: CA2606968789
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs2126594674
gnomAD v3: 4-186204677-C-A
gnomAD v4: 4-186204677-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186204677C>A , CM000666.2:g.186204677C>A GRCh38
NC_000004.11:g.187125831C>A , CM000666.1:g.187125831C>A GRCh37
NC_000004.10:g.187362825C>A NCBI36
NG_007965.1:g.18158C>A
NG_012095.2:g.699C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.988-523C>A MANE Select ENSP00000368079.4:n.988-523C>A
ENST00000378802.4:c.988-523C>A ENSP00000368079.4:n.988-523C>A
ENST00000507209.5:n.5163C>A
ENST00000513354.5:n.77+220C>A
NM_207352.3:c.988-523C>A NP_997235.3:n.988-523C>A
XM_005262935.2:c.988-523C>A XP_005262992.1:n.988-523C>A
XM_006714184.2:c.592-523C>A XP_006714247.1:n.592-523C>A
XM_005262935.4:c.988-523C>A XP_005262992.1:n.988-523C>A
XM_017008037.1:c.592-523C>A XP_016863526.1:n.592-523C>A
NM_207352.4:c.988-523C>A MANE Select NP_997235.3:n.988-523C>A
Search 100 bp 5'
Search 100 bp 3'