Canonical Allele Identifier: CA343726
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186194568G>A
GRCh37 chr4:g.187115722G>A
Revel Score:
ENST00000378802 (MANE Select) 0.915
ENST00000274118 0.915
gnomAD v2:
4:187115722 G / A
gnomAD v3:
4:186194568 G / A
gnomAD v4:
chr4-186194568-G-A
Joint Max Group AF 0.00002826 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002828 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194568G>A , CM000666.2:g.186194568G>A GRCh38
NC_000004.11:g.187115722G>A , CM000666.1:g.187115722G>A GRCh37
NC_000004.10:g.187352716G>A NCBI36
NG_007965.1:g.8049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.283G>A MANE Select ENSP00000368079.4:p.Gly95Arg
ENST00000378802.4:c.283G>A ENSP00000368079.4:p.Gly95Arg
NM_207352.3:c.283G>A NP_997235.3:p.Gly95Arg
XM_005262935.2:c.283G>A XP_005262992.1:p.Gly95Arg
XM_006714184.2:c.-28G>A XP_006714247.1:n.-28G>A
XM_005262935.4:c.283G>A XP_005262992.1:p.Gly95Arg
XM_017008037.1:c.-28G>A XP_016863526.1:n.-28G>A
NM_207352.4:c.283G>A MANE Select NP_997235.3:p.Gly95Arg
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