Canonical Allele Identifier: CA3162561
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061602
ClinVar RCV Id: RCV001371214
dbSNP Id: rs779534809
ExAC: 4:187118111 G / A
gnomAD v2: 4-187118111-G-A
gnomAD v3: 4-186196957-G-A
gnomAD v4: 4-186196957-G-A
MyVariant Identifiers: chr4:g.187118111G>A (hg19) chr4:g.186196957G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196957G>A , CM000666.2:g.186196957G>A GRCh38
NC_000004.11:g.187118111G>A , CM000666.1:g.187118111G>A GRCh37
NC_000004.10:g.187355105G>A NCBI36
NG_007965.1:g.10438G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.431G>A MANE Select ENSP00000368079.4:p.Arg144His
ENST00000378802.4:c.431G>A ENSP00000368079.4:p.Arg144His
ENST00000507209.5:n.870G>A
NM_207352.3:c.431G>A NP_997235.3:p.Arg144His
XM_005262935.2:c.431G>A XP_005262992.1:p.Arg144His
XM_006714184.2:c.35G>A XP_006714247.1:p.Arg12His
XM_005262935.4:c.431G>A XP_005262992.1:p.Arg144His
XM_017008037.1:c.35G>A XP_016863526.1:p.Arg12His
NM_207352.4:c.431G>A MANE Select NP_997235.3:p.Arg144His
Search 100 bp 5'
Search 100 bp 3'