Canonical Allele Identifier: CA3162436
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438149
ClinVar RCV Id: RCV000504812 RCV001865638
dbSNP Id: rs745413794
ExAC: 4:187113174 T / G
gnomAD v2: 4-187113174-T-G
gnomAD v3: 4-186192020-T-G
gnomAD v4: 4-186192020-T-G
MyVariant Identifiers: chr4:g.187113174T>G (hg19) chr4:g.186192020T>G (hg38)
PubMed: PMID:24480711 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186192020T>G , CM000666.2:g.186192020T>G GRCh38
NC_000004.11:g.187113174T>G , CM000666.1:g.187113174T>G GRCh37
NC_000004.10:g.187350168T>G NCBI36
NG_007965.1:g.5501T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.197T>G MANE Select ENSP00000368079.4:p.Met66Arg
ENST00000378802.4:c.197T>G ENSP00000368079.4:p.Met66Arg
NM_207352.3:c.197T>G NP_997235.3:p.Met66Arg
XM_005262935.2:c.197T>G XP_005262992.1:p.Met66Arg
XM_005262935.4:c.197T>G XP_005262992.1:p.Met66Arg
XM_017008037.1:c.-114T>G XP_016863526.1:n.-114T>G
NM_207352.4:c.197T>G MANE Select NP_997235.3:p.Met66Arg
Search 100 bp 5'
Search 100 bp 3'