Canonical Allele Identifier: CA4369748

Gene: CYP3A4

Linked Data

• dbSNP Id: rs766618281
• ExAC: 7:99367444 C / CG
• gnomAD v2: 7-99367444-C-CG
• gnomAD v4: 7-99769821-C-CG
• MyVariant Identifiers: chr7:g.99367444_99367445insG (hg19) ; chr7:g.99769821_99769822insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99769821_99769822insG , CM000669.2:g.99769821_99769822insG	GRCh38
NC_000007.13:g.99367444_99367445insG , CM000669.1:g.99367444_99367445insG	GRCh37
NC_000007.12:g.99205380_99205381insG	NCBI36
NG_008421.1:g.19364_19365insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.467_468insC	ENSP00000337915.3:p.Leu156PhefsTer31
ENST00000651514.1:c.467_468insC MANE Select	ENSP00000498939.1:p.Leu156PhefsTer31
ENST00000651783.1:c.58-1315_58-1314insC	ENSP00000498924.1:n.58-1315_58-1314insC
ENST00000652018.1:c.320_321insC	ENSP00000498733.1:p.Leu107PhefsTer31
ENST00000336411.6:c.467_468insC	ENSP00000337915.2:p.Leu156PhefsTer31
ENST00000354593.6:c.72-1320_72-1319insC	ENSP00000346607.2:n.72-1320_72-1319insC
ENST00000480043.1:n.364_365insC
NM_001202855.2:c.467_468insC	NP_001189784.1:p.Leu156PhefsTer31
NM_017460.5:c.467_468insC	NP_059488.2:p.Leu156PhefsTer31
XM_011515841.1:c.467_468insC	XP_011514143.1:p.Leu156PhefsTer31
XM_011515842.1:c.467_468insC	XP_011514144.1:p.Leu156PhefsTer31
NM_017460.6:c.467_468insC MANE Select	NP_059488.2:p.Leu156PhefsTer31
NM_001202855.3:c.467_468insC	NP_001189784.1:p.Leu156PhefsTer31