Canonical Allele Identifier: CA3162752
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1183437
ClinVar RCV Id: RCV001541281
dbSNP Id: rs2276917
ExAC: 4:187129995 A / G
gnomAD v2: 4-187129995-A-G
gnomAD v3: 4-186208841-A-G
gnomAD v4: 4-186208841-A-G
MyVariant Identifiers: chr4:g.187129995A>G (hg19) chr4:g.186208841A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208841A>G , CM000666.2:g.186208841A>G GRCh38
NC_000004.11:g.187129995A>G , CM000666.1:g.187129995A>G GRCh37
NC_000004.10:g.187366989A>G NCBI36
NG_007965.1:g.22322A>G
NG_012095.2:g.4863A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1091-24A>G MANE Select ENSP00000368079.4:n.1091-24A>G
ENST00000378802.4:c.1091-24A>G ENSP00000368079.4:n.1091-24A>G
ENST00000502665.1:n.326-24A>G
ENST00000507209.5:n.5789-24A>G
ENST00000513354.5:n.181-24A>G
NM_207352.3:c.1091-24A>G NP_997235.3:n.1091-24A>G
XM_005262935.2:c.1091-24A>G XP_005262992.1:n.1091-24A>G
XM_006714184.2:c.695-24A>G XP_006714247.1:n.695-24A>G
XM_005262935.4:c.1091-24A>G XP_005262992.1:n.1091-24A>G
XM_017008037.1:c.695-24A>G XP_016863526.1:n.695-24A>G
NM_207352.4:c.1091-24A>G MANE Select NP_997235.3:n.1091-24A>G
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