Canonical Allele Identifier: CA368370857
Gene: CYP3A4 HGNC NCBI

Linked Data

dbSNP Id: rs1320691708
gnomAD v2: 7-99366025-T-C
gnomAD v4: 7-99768402-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000336411.7:c.622A>G ENSP00000337915.3:p.Lys208Glu
ENST00000651514.1:c.622A>G MANE Select ENSP00000498939.1:p.Lys208Glu
ENST00000651783.1:c.163A>G ENSP00000498924.1:p.Lys55Glu
ENST00000652018.1:c.475A>G ENSP00000498733.1:p.Lys159Glu
ENST00000336411.6:c.622A>G ENSP00000337915.2:p.Lys208Glu
ENST00000354593.6:c.172A>G ENSP00000346607.2:p.Lys58Glu
NM_001202855.2:c.622A>G NP_001189784.1:p.Lys208Glu
NM_017460.5:c.622A>G NP_059488.2:p.Lys208Glu
XM_011515841.1:c.622A>G XP_011514143.1:p.Lys208Glu
XM_011515842.1:c.622A>G XP_011514144.1:p.Lys208Glu
NM_017460.6:c.622A>G MANE Select NP_059488.2:p.Lys208Glu
NM_001202855.3:c.622A>G NP_001189784.1:p.Lys208Glu