Canonical Allele Identifier: CA4369585
Gene: CYP3A4 HGNC NCBI
COSMIC:
COSN17135646 (not active)
COSN17142160 (not active)
COSN17145084 (not active)
COSN17147777 (not active)
MyVariant.info:
GRCh38 chr7:g.99763843C>T
GRCh37 chr7:g.99361466C>T
gnomAD v2:
7:99361466 C / T
gnomAD v3:
7:99763843 C / T
gnomAD v4:
chr7-99763843-C-T
Joint Max Group AF 0.73633269 (AFR)
Genomes Max Group AF 0.72594252 (AFR)
Exomes Max Group AF 0.74444296 (AFR)
ClinVar RCV:
RCV003228705
RCV003228706
ClinVar Variation:
2502287
dbSNP:
2242480
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99763843C>T , CM000669.2:g.99763843C>T GRCh38
NC_000007.13:g.99361466C>T , CM000669.1:g.99361466C>T GRCh37
NC_000007.12:g.99199402C>T NCBI36
NG_008421.1:g.25343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1026+12G>A ENSP00000337915.3:n.1026+12G>A
ENST00000651162.1:n.461+12G>A
ENST00000651514.1:c.1026+12G>A MANE Select ENSP00000498939.1:n.1026+12G>A
ENST00000651783.1:c.567+12G>A ENSP00000498924.1:n.567+12G>A
ENST00000652018.1:c.879+12G>A ENSP00000498733.1:n.879+12G>A
ENST00000336411.6:c.1026+12G>A ENSP00000337915.2:n.1026+12G>A
ENST00000354593.6:c.576+12G>A ENSP00000346607.2:n.576+12G>A
NM_001202855.2:c.1023+12G>A NP_001189784.1:n.1023+12G>A
NM_017460.5:c.1026+12G>A NP_059488.2:n.1026+12G>A
XM_011515841.1:c.1026+12G>A XP_011514143.1:n.1026+12G>A
XM_011515842.1:c.1023+12G>A XP_011514144.1:n.1023+12G>A
NM_017460.6:c.1026+12G>A MANE Select NP_059488.2:n.1026+12G>A
NM_001202855.3:c.1023+12G>A NP_001189784.1:n.1023+12G>A
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