Canonical Allele Identifier: CA404553997
Gene: CYP4F3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15645768C>T
GRCh37 chr19:g.15756578C>T
Revel Score:
ENST00000221307 (MANE Select) 0.175
gnomAD v2:
19:15756578 C / T
gnomAD v3:
19:15645768 C / T
gnomAD v4:
chr19-15645768-C-T
Joint Max Group AF 0.00001425 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV001531452
ClinVar Variation:
1176068
dbSNP:
1231391078
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15645768C>T , CM000681.2:g.15645768C>T GRCh38
NC_000019.9:g.15756578C>T , CM000681.1:g.15756578C>T GRCh37
NC_000019.8:g.15617578C>T NCBI36
NG_007964.1:g.9872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221307.13:c.248C>T MANE Select ENSP00000221307.6:p.Thr83Ile
ENST00000221307.12:c.248C>T ENSP00000221307.6:p.Thr83Ile
ENST00000585846.1:c.344-1284C>T ENSP00000468105.1:n.344-1284C>T
ENST00000586182.6:c.344-1284C>T ENSP00000466395.1:n.344-1284C>T
ENST00000587360.1:c.199-1284C>T ENSP00000465394.1:n.199-1284C>T
ENST00000591058.5:c.344-1284C>T ENSP00000466988.1:n.344-1284C>T
ENST00000592279.6:n.394-1284C>T
ENST00000609670.1:n.14C>T
ENST00000620621.4:c.344-1284C>T ENSP00000478605.1:n.344-1284C>T
NM_000896.2:c.248C>T NP_000887.2:p.Thr83Ile
NM_001199208.1:c.344-1284C>T NP_001186137.1:n.344-1284C>T
NM_001199209.1:c.344-1284C>T NP_001186138.1:n.344-1284C>T
XM_005259911.3:c.-104-1284C>T XP_005259968.1:n.-104-1284C>T
XM_011528014.1:c.-225C>T XP_011526316.1:n.-225C>T
XM_005259911.5:c.-104-1284C>T XP_005259968.1:n.-104-1284C>T
XM_011528014.3:c.-225C>T XP_011526316.1:n.-225C>T
XM_017026815.1:c.344-1284C>T XP_016882304.1:n.344-1284C>T
XM_024451515.1:c.344-1284C>T XP_024307283.1:n.344-1284C>T
NM_000896.3:c.248C>T MANE Select NP_000887.2:p.Thr83Ile
NM_001199208.2:c.344-1284C>T NP_001186137.1:n.344-1284C>T
NM_001199209.2:c.344-1284C>T NP_001186138.1:n.344-1284C>T
NM_001369696.1:c.344-1284C>T NP_001356625.1:n.344-1284C>T
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