Canonical Allele Identifier: CA343723
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39259
ClinVar RCV Id: RCV000032536 RCV000352220 RCV001092654 RCV001074796
dbSNP Id: rs199476185
ExAC: 4:187115676 G / T
gnomAD v2: 4-187115676-G-T
gnomAD v3: 4-186194522-G-T
gnomAD v4: 4-186194522-G-T
MyVariant Identifiers: chr4:g.187115676G>T (hg19) chr4:g.186194522G>T (hg38)
PubMed: PMID:15042513 PMID:21565171 PMID:22497028
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194522G>T , CM000666.2:g.186194522G>T GRCh38
NC_000004.11:g.187115676G>T , CM000666.1:g.187115676G>T GRCh37
NC_000004.10:g.187352670G>T NCBI36
NG_007965.1:g.8003G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.237G>T MANE Select ENSP00000368079.4:p.Glu79Asp
ENST00000378802.4:c.237G>T ENSP00000368079.4:p.Glu79Asp
NM_207352.3:c.237G>T NP_997235.3:p.Glu79Asp
XM_005262935.2:c.237G>T XP_005262992.1:p.Glu79Asp
XM_005262935.4:c.237G>T XP_005262992.1:p.Glu79Asp
XM_017008037.1:c.-74G>T XP_016863526.1:n.-74G>T
NM_207352.4:c.237G>T MANE Select NP_997235.3:p.Glu79Asp
Search 100 bp 5'
Search 100 bp 3'