Canonical Allele Identifier: CA4369481
Gene: CYP3A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.99760836G>A
GRCh37 chr7:g.99358459G>A
Revel Score:
ENST00000354593 0.162
ENST00000336411 0.162
gnomAD v2:
7:99358459 G / A
gnomAD v3:
7:99760836 G / A
gnomAD v4:
chr7-99760836-G-A
Joint Max Group AF 0.001015 (SAS)
Genomes Max Group AF 0.00127773 (SAS)
Exomes Max Group AF 0.00095447 (SAS)
dbSNP:
4986913
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760836G>A , CM000669.2:g.99760836G>A GRCh38
NC_000007.13:g.99358459G>A , CM000669.1:g.99358459G>A GRCh37
NC_000007.12:g.99196395G>A NCBI36
NG_008421.1:g.28350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1492C>T ENSP00000337915.3:p.Pro498Ser
ENST00000651162.1:n.834C>T
ENST00000651514.1:c.1399C>T MANE Select ENSP00000498939.1:p.Pro467Ser
ENST00000651783.1:c.940C>T ENSP00000498924.1:p.Pro314Ser
ENST00000652018.1:c.1252C>T ENSP00000498733.1:p.Pro418Ser
ENST00000336411.6:c.1399C>T ENSP00000337915.2:p.Pro467Ser
ENST00000354593.6:c.949C>T ENSP00000346607.2:p.Pro317Ser
NM_001202855.2:c.1396C>T NP_001189784.1:p.Pro466Ser
NM_017460.5:c.1399C>T NP_059488.2:p.Pro467Ser
XM_011515841.1:c.1492C>T XP_011514143.1:p.Pro498Ser
XM_011515842.1:c.1489C>T XP_011514144.1:p.Pro497Ser
NM_017460.6:c.1399C>T MANE Select NP_059488.2:p.Pro467Ser
NM_001202855.3:c.1396C>T NP_001189784.1:p.Pro466Ser
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