Canonical Allele Identifier: CA2672897256
Gene: CYP4V2 HGNC NCBI

Linked Data

gnomAD v4: 4-186197254-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197254T>C , CM000666.2:g.186197254T>C GRCh38
NC_000004.11:g.187118408T>C , CM000666.1:g.187118408T>C GRCh37
NC_000004.10:g.187355402T>C NCBI36
NG_007965.1:g.10735T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.604+124T>C MANE Select ENSP00000368079.4:n.604+124T>C
ENST00000378802.4:c.604+124T>C ENSP00000368079.4:n.604+124T>C
ENST00000507209.5:n.1167T>C
NM_207352.3:c.604+124T>C NP_997235.3:n.604+124T>C
XM_005262935.2:c.604+124T>C XP_005262992.1:n.604+124T>C
XM_006714184.2:c.208+124T>C XP_006714247.1:n.208+124T>C
XM_005262935.4:c.604+124T>C XP_005262992.1:n.604+124T>C
XM_017008037.1:c.208+124T>C XP_016863526.1:n.208+124T>C
NM_207352.4:c.604+124T>C MANE Select NP_997235.3:n.604+124T>C
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