Canonical Allele Identifier: CA4369735
Gene: CYP3A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.99769769C>G
GRCh37 chr7:g.99367392C>G
Revel Score:
ENST00000336411 0.152
ENST00000544160 0.152
gnomAD v2:
7:99367392 C / G
gnomAD v3:
7:99769769 C / G
gnomAD v4:
chr7-99769769-C-G
Joint Max Group AF 0.00467898 (NFE)
Genomes Max Group AF 0.00359371 (NFE)
Exomes Max Group AF 0.00472429 (NFE)
dbSNP:
4986908
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99769769C>G , CM000669.2:g.99769769C>G GRCh38
NC_000007.13:g.99367392C>G , CM000669.1:g.99367392C>G GRCh37
NC_000007.12:g.99205328C>G NCBI36
NG_008421.1:g.19417G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.520G>C ENSP00000337915.3:p.Asp174His
ENST00000651514.1:c.520G>C MANE Select ENSP00000498939.1:p.Asp174His
ENST00000651783.1:c.58-1262G>C ENSP00000498924.1:n.58-1262G>C
ENST00000652018.1:c.373G>C ENSP00000498733.1:p.Asp125His
ENST00000336411.6:c.520G>C ENSP00000337915.2:p.Asp174His
ENST00000354593.6:c.72-1267G>C ENSP00000346607.2:n.72-1267G>C
ENST00000480043.1:n.417G>C
NM_001202855.2:c.520G>C NP_001189784.1:p.Asp174His
NM_017460.5:c.520G>C NP_059488.2:p.Asp174His
XM_011515841.1:c.520G>C XP_011514143.1:p.Asp174His
XM_011515842.1:c.520G>C XP_011514144.1:p.Asp174His
NM_017460.6:c.520G>C MANE Select NP_059488.2:p.Asp174His
NM_001202855.3:c.520G>C NP_001189784.1:p.Asp174His
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