Canonical Allele Identifier: CA792327727
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1213411375
gnomAD v3: 4-186208813-C-A
gnomAD v4: 4-186208813-C-A
MyVariant Identifiers: chr4:g.187129967C>A (hg19) chr4:g.186208813C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208813C>A , CM000666.2:g.186208813C>A GRCh38
NC_000004.11:g.187129967C>A , CM000666.1:g.187129967C>A GRCh37
NC_000004.10:g.187366961C>A NCBI36
NG_007965.1:g.22294C>A
NG_012095.2:g.4835C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1091-52C>A MANE Select ENSP00000368079.4:n.1091-52C>A
ENST00000378802.4:c.1091-52C>A ENSP00000368079.4:n.1091-52C>A
ENST00000502665.1:n.326-52C>A
ENST00000507209.5:n.5789-52C>A
ENST00000513354.5:n.181-52C>A
NM_207352.3:c.1091-52C>A NP_997235.3:n.1091-52C>A
XM_005262935.2:c.1091-52C>A XP_005262992.1:n.1091-52C>A
XM_006714184.2:c.695-52C>A XP_006714247.1:n.695-52C>A
XM_005262935.4:c.1091-52C>A XP_005262992.1:n.1091-52C>A
XM_017008037.1:c.695-52C>A XP_016863526.1:n.695-52C>A
NM_207352.4:c.1091-52C>A MANE Select NP_997235.3:n.1091-52C>A
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