Canonical Allele Identifier: CA3162585
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 348302
ClinVar RCV Id: RCV000315783 RCV000375099 RCV001514171
dbSNP Id: rs11932764
ExAC: 4:187118235 A / T
gnomAD v2: 4-187118235-A-T
gnomAD v3: 4-186197081-A-T
gnomAD v4: 4-186197081-A-T
MyVariant Identifiers: chr4:g.187118235A>T (hg19) chr4:g.186197081A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197081A>T , CM000666.2:g.186197081A>T GRCh38
NC_000004.11:g.187118235A>T , CM000666.1:g.187118235A>T GRCh37
NC_000004.10:g.187355229A>T NCBI36
NG_007965.1:g.10562A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.555A>T MANE Select ENSP00000368079.4:p.Ala185=
ENST00000378802.4:c.555A>T ENSP00000368079.4:p.Ala185=
ENST00000507209.5:n.994A>T
NM_207352.3:c.555A>T NP_997235.3:p.Ala185=
XM_005262935.2:c.555A>T XP_005262992.1:p.Ala185=
XM_006714184.2:c.159A>T XP_006714247.1:p.Ala53=
XM_005262935.4:c.555A>T XP_005262992.1:p.Ala185=
XM_017008037.1:c.159A>T XP_016863526.1:p.Ala53=
NM_207352.4:c.555A>T MANE Select NP_997235.3:p.Ala185=
Search 100 bp 5'
Search 100 bp 3'