Canonical Allele Identifier: CA343708
Gene: CYP4V2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186208943G>A
GRCh37 chr4:g.187130097G>A
Revel Score:
ENST00000378802 (MANE Select) 0.960
ENST00000274118 0.960
gnomAD v2:
4:187130097 G / A
gnomAD v4:
chr4-186208943-G-A
Joint Max Group AF 0.00001567 (NFE)
Exomes Max Group AF 0.00001663 (NFE)
ClinVar RCV:
RCV000032528
RCV001358595
ClinVar Variation:
39251
dbSNP:
199476201
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208943G>A , CM000666.2:g.186208943G>A GRCh38
NC_000004.11:g.187130097G>A , CM000666.1:g.187130097G>A GRCh37
NC_000004.10:g.187367091G>A NCBI36
NG_007965.1:g.22424G>A
NG_012095.2:g.4965G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1169G>A MANE Select ENSP00000368079.4:p.Arg390His
ENST00000378802.4:c.1169G>A ENSP00000368079.4:p.Arg390His
ENST00000502665.1:n.404G>A
ENST00000507209.5:n.5867G>A
ENST00000513354.5:n.259G>A
NM_207352.3:c.1169G>A NP_997235.3:p.Arg390His
XM_005262935.2:c.1169G>A XP_005262992.1:p.Arg390His
XM_006714184.2:c.773G>A XP_006714247.1:p.Arg258His
XM_005262935.4:c.1169G>A XP_005262992.1:p.Arg390His
XM_017008037.1:c.773G>A XP_016863526.1:p.Arg258His
NM_207352.4:c.1169G>A MANE Select NP_997235.3:p.Arg390His
Search 100 bp 5'
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