Canonical Allele Identifier: CA844514461

Gene: CYP3A4

Linked Data

• dbSNP Id: rs1386680695
• gnomAD v3: 7-99768396-GCTT-G
• gnomAD v4: 7-99768396-GCTT-G
• MyVariant Identifiers: chr7:g.99366020_99366022del (hg19) ; chr7:g.99768397_99768399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99768400_99768402del , CM000669.2:g.99768400_99768402del	GRCh38
NC_000007.13:g.99366023_99366025del , CM000669.1:g.99366023_99366025del	GRCh37
NC_000007.12:g.99203959_99203961del	NCBI36
NG_008421.1:g.20787_20789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336411.7:c.625_627del	ENSP00000337915.3:p.Lys209del
ENST00000651514.1:c.625_627del MANE Select	ENSP00000498939.1:p.Lys209del
ENST00000651783.1:c.166_168del	ENSP00000498924.1:p.Lys56del
ENST00000652018.1:c.478_480del	ENSP00000498733.1:p.Lys160del
ENST00000336411.6:c.625_627del	ENSP00000337915.2:p.Lys209del
ENST00000354593.6:c.175_177del	ENSP00000346607.2:p.Lys59del
NM_001202855.2:c.625_627del	NP_001189784.1:p.Lys209del
NM_017460.5:c.625_627del	NP_059488.2:p.Lys209del
XM_011515841.1:c.625_627del	XP_011514143.1:p.Lys209del
XM_011515842.1:c.625_627del	XP_011514144.1:p.Lys209del
NM_017460.6:c.625_627del MANE Select	NP_059488.2:p.Lys209del
NM_001202855.3:c.625_627del	NP_001189784.1:p.Lys209del