Canonical Allele Identifier: CA4369535
Gene: CYP3A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.99762047G>A
GRCh37 chr7:g.99359670G>A
Revel Score:
ENST00000354593 0.627
ENST00000336411 0.627
gnomAD v2:
7:99359670 G / A
gnomAD v3:
7:99762047 G / A
gnomAD v4:
chr7-99762047-G-A
Joint Max Group AF 0.00017064 (NFE)
Genomes Max Group AF 0.00012403 (NFE)
Exomes Max Group AF 0.00016935 (NFE)
dbSNP:
4986909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99762047G>A , CM000669.2:g.99762047G>A GRCh38
NC_000007.13:g.99359670G>A , CM000669.1:g.99359670G>A GRCh37
NC_000007.12:g.99197606G>A NCBI36
NG_008421.1:g.27139C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1247C>T ENSP00000337915.3:p.Pro416Leu
ENST00000651162.1:n.682C>T
ENST00000651514.1:c.1247C>T MANE Select ENSP00000498939.1:p.Pro416Leu
ENST00000651783.1:c.788C>T ENSP00000498924.1:p.Pro263Leu
ENST00000652018.1:c.1100C>T ENSP00000498733.1:p.Pro367Leu
ENST00000336411.6:c.1247C>T ENSP00000337915.2:p.Pro416Leu
ENST00000354593.6:c.797C>T ENSP00000346607.2:p.Pro266Leu
NM_001202855.2:c.1244C>T NP_001189784.1:p.Pro415Leu
NM_017460.5:c.1247C>T NP_059488.2:p.Pro416Leu
XM_011515841.1:c.1247C>T XP_011514143.1:p.Pro416Leu
XM_011515842.1:c.1244C>T XP_011514144.1:p.Pro415Leu
NM_017460.6:c.1247C>T MANE Select NP_059488.2:p.Pro416Leu
NM_001202855.3:c.1244C>T NP_001189784.1:p.Pro415Leu
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