Canonical Allele Identifier: CA4369455
Gene: CYP3A4 HGNC NCBI
gnomAD v2:
7:99355806 G / GT
gnomAD v3:
7:99758183 G / GT
gnomAD v4:
chr7-99758183-G-GT
Joint Max Group AF 0.00105178 (AMR)
Genomes Max Group AF 0.00102853 (AMR)
Exomes Max Group AF 0.00094961 (AMR)
ClinVar RCV:
RCV001752887
ClinVar Variation:
1318112
dbSNP:
67666821
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99758188dup , CM000669.2:g.99758188dup GRCh38
NC_000007.13:g.99355811dup , CM000669.1:g.99355811dup GRCh37
NC_000007.12:g.99193747dup NCBI36
NG_008421.1:g.31002dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1554dup ENSP00000337915.3:p.Pro519ThrfsTer7
ENST00000651162.1:n.896dup
ENST00000651514.1:c.1461dup MANE Select ENSP00000498939.1:p.Pro488ThrfsTer7
ENST00000651783.1:c.1002dup ENSP00000498924.1:p.Pro335ThrfsTer7
ENST00000652018.1:c.1314dup ENSP00000498733.1:p.Pro439ThrfsTer7
ENST00000336411.6:c.1461dup ENSP00000337915.2:p.Pro488ThrfsTer7
ENST00000354593.6:c.1011dup ENSP00000346607.2:p.Pro338ThrfsTer7
NM_001202855.2:c.1458dup NP_001189784.1:p.Pro487ThrfsTer7
NM_017460.5:c.1461dup NP_059488.2:p.Pro488ThrfsTer7
XM_011515841.1:c.1554dup XP_011514143.1:p.Pro519ThrfsTer7
XM_011515842.1:c.1551dup XP_011514144.1:p.Pro518ThrfsTer7
NM_017460.6:c.1461dup MANE Select NP_059488.2:p.Pro488ThrfsTer7
NM_001202855.3:c.1458dup NP_001189784.1:p.Pro487ThrfsTer7
Search 100 bp 5'
Search 100 bp 3'