Canonical Allele Identifier: CA2672897380
Gene: CYP4V2 HGNC NCBI

Linked Data

gnomAD v4: 4-186197330-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197330C>A , CM000666.2:g.186197330C>A GRCh38
NC_000004.11:g.187118484C>A , CM000666.1:g.187118484C>A GRCh37
NC_000004.10:g.187355478C>A NCBI36
NG_007965.1:g.10811C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.604+200C>A MANE Select ENSP00000368079.4:n.604+200C>A
ENST00000378802.4:c.604+200C>A ENSP00000368079.4:n.604+200C>A
ENST00000507209.5:n.1243C>A
NM_207352.3:c.604+200C>A NP_997235.3:n.604+200C>A
XM_005262935.2:c.604+200C>A XP_005262992.1:n.604+200C>A
XM_006714184.2:c.208+200C>A XP_006714247.1:n.208+200C>A
XM_005262935.4:c.604+200C>A XP_005262992.1:n.604+200C>A
XM_017008037.1:c.208+200C>A XP_016863526.1:n.208+200C>A
NM_207352.4:c.604+200C>A MANE Select NP_997235.3:n.604+200C>A
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