Canonical Allele Identifier: CA4369687

Gene: CYP3A4

Linked Data

• dbSNP Id: rs768320602
• ExAC: 7:99365999 C / CA
• gnomAD v2: 7-99365999-C-CA
• gnomAD v3: 7-99768376-C-CA
• gnomAD v4: 7-99768376-C-CA
• MyVariant Identifiers: chr7:g.99365999_99366000insA (hg19) ; chr7:g.99768376_99768377insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768382dup , CM000669.2:g.99768382dup	GRCh38
NC_000007.13:g.99366005dup , CM000669.1:g.99366005dup	GRCh37
NC_000007.12:g.99203941dup	NCBI36
NG_008421.1:g.20809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.647dup	ENSP00000337915.3:p.Leu216PhefsTer19
ENST00000651514.1:c.647dup MANE Select	ENSP00000498939.1:p.Leu216PhefsTer19
ENST00000651783.1:c.188dup	ENSP00000498924.1:p.Leu63PhefsTer19
ENST00000652018.1:c.500dup	ENSP00000498733.1:p.Leu167PhefsTer19
ENST00000336411.6:c.647dup	ENSP00000337915.2:p.Leu216PhefsTer19
ENST00000354593.6:c.197dup	ENSP00000346607.2:p.Leu66PhefsTer19
NM_001202855.2:c.647dup	NP_001189784.1:p.Leu216PhefsTer18
NM_017460.5:c.647dup	NP_059488.2:p.Leu216PhefsTer19
XM_011515841.1:c.647dup	XP_011514143.1:p.Leu216PhefsTer19
XM_011515842.1:c.647dup	XP_011514144.1:p.Leu216PhefsTer18
NM_017460.6:c.647dup MANE Select	NP_059488.2:p.Leu216PhefsTer19
NM_001202855.3:c.647dup	NP_001189784.1:p.Leu216PhefsTer18