Canonical Allele Identifier: CA368368752
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99760970-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99760970T>C , CM000669.2:g.99760970T>C GRCh38
NC_000007.13:g.99358593T>C , CM000669.1:g.99358593T>C GRCh37
NC_000007.12:g.99196529T>C NCBI36
NG_008421.1:g.28216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.1358A>G ENSP00000337915.3:p.Lys453Arg
ENST00000651162.1:n.700A>G
ENST00000651514.1:c.1265A>G MANE Select ENSP00000498939.1:p.Lys422Arg
ENST00000651783.1:c.806A>G ENSP00000498924.1:p.Lys269Arg
ENST00000652018.1:c.1118A>G ENSP00000498733.1:p.Lys373Arg
ENST00000336411.6:c.1265A>G ENSP00000337915.2:p.Lys422Arg
ENST00000354593.6:c.815A>G ENSP00000346607.2:p.Lys272Arg
NM_001202855.2:c.1262A>G NP_001189784.1:p.Lys421Arg
NM_017460.5:c.1265A>G NP_059488.2:p.Lys422Arg
XM_011515841.1:c.1358A>G XP_011514143.1:p.Lys453Arg
XM_011515842.1:c.1355A>G XP_011514144.1:p.Lys452Arg
NM_017460.6:c.1265A>G MANE Select NP_059488.2:p.Lys422Arg
NM_001202855.3:c.1262A>G NP_001189784.1:p.Lys421Arg