Canonical Allele Identifier: CA358948015
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2074739
ClinVar RCV Id: RCV002963004
dbSNP Id: rs1736233123
MyVariant Identifiers: chr4:g.187120177G>A (hg19) chr4:g.186199023G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186199023G>A , CM000666.2:g.186199023G>A GRCh38
NC_000004.11:g.187120177G>A , CM000666.1:g.187120177G>A GRCh37
NC_000004.10:g.187357171G>A NCBI36
NG_007965.1:g.12504G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.741G>A MANE Select ENSP00000368079.4:p.Met247Ile
ENST00000378802.4:c.741G>A ENSP00000368079.4:p.Met247Ile
ENST00000507209.5:n.1582G>A
NM_207352.3:c.741G>A NP_997235.3:p.Met247Ile
XM_005262935.2:c.741G>A XP_005262992.1:p.Met247Ile
XM_006714184.2:c.345G>A XP_006714247.1:p.Met115Ile
XM_005262935.4:c.741G>A XP_005262992.1:p.Met247Ile
XM_017008037.1:c.345G>A XP_016863526.1:p.Met115Ile
NM_207352.4:c.741G>A MANE Select NP_997235.3:p.Met247Ile
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