Canonical Allele Identifier: CA339955
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186196007T>C
GRCh37 chr4:g.187117161T>C
Revel Score:
ENST00000378802 (MANE Select) 0.919
ENST00000274118 0.919
gnomAD v2:
4:187117161 T / C
gnomAD v3:
4:186196007 T / C
gnomAD v4:
chr4-186196007-T-C
Joint Max Group AF 0.00007172 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.00007061 (NFE)
ClinVar RCV:
RCV000002272
RCV001047112
ClinVar Variation:
2188
dbSNP:
119103283
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196007T>C , CM000666.2:g.186196007T>C GRCh38
NC_000004.11:g.187117161T>C , CM000666.1:g.187117161T>C GRCh37
NC_000004.10:g.187354155T>C NCBI36
NG_007965.1:g.9488T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.332T>C MANE Select ENSP00000368079.4:p.Ile111Thr
ENST00000378802.4:c.332T>C ENSP00000368079.4:p.Ile111Thr
NM_207352.3:c.332T>C NP_997235.3:p.Ile111Thr
XM_005262935.2:c.332T>C XP_005262992.1:p.Ile111Thr
XM_006714184.2:c.18-933T>C XP_006714247.1:n.18-933T>C
XM_005262935.4:c.332T>C XP_005262992.1:p.Ile111Thr
XM_017008037.1:c.18-933T>C XP_016863526.1:n.18-933T>C
NM_207352.4:c.332T>C MANE Select NP_997235.3:p.Ile111Thr
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