Canonical Allele Identifier: CA368370854
Gene: CYP3A4 HGNC NCBI

Linked Data

gnomAD v4: 7-99768402-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99768402T>G , CM000669.2:g.99768402T>G GRCh38
NC_000007.13:g.99366025T>G , CM000669.1:g.99366025T>G GRCh37
NC_000007.12:g.99203961T>G NCBI36
NG_008421.1:g.20784A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336411.7:c.622A>C ENSP00000337915.3:p.Lys208Gln
ENST00000651514.1:c.622A>C MANE Select ENSP00000498939.1:p.Lys208Gln
ENST00000651783.1:c.163A>C ENSP00000498924.1:p.Lys55Gln
ENST00000652018.1:c.475A>C ENSP00000498733.1:p.Lys159Gln
ENST00000336411.6:c.622A>C ENSP00000337915.2:p.Lys208Gln
ENST00000354593.6:c.172A>C ENSP00000346607.2:p.Lys58Gln
NM_001202855.2:c.622A>C NP_001189784.1:p.Lys208Gln
NM_017460.5:c.622A>C NP_059488.2:p.Lys208Gln
XM_011515841.1:c.622A>C XP_011514143.1:p.Lys208Gln
XM_011515842.1:c.622A>C XP_011514144.1:p.Lys208Gln
NM_017460.6:c.622A>C MANE Select NP_059488.2:p.Lys208Gln
NM_001202855.3:c.622A>C NP_001189784.1:p.Lys208Gln