Canonical Allele Identifier: CA367582451

Gene: EGFR

Linked Data

• MyVariant Identifiers: chr7:g.55268936T>A (hg19) ; chr7:g.55201243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201243T>A , CM000669.2:g.55201243T>A	GRCh38
NC_000007.13:g.55268936T>A , CM000669.1:g.55268936T>A	GRCh37
NC_000007.12:g.55236430T>A	NCBI36
NG_007726.3:g.187212T>A , LRG_304:g.187212T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2843T>A	ENSP00000413354.2:p.Leu948Gln
ENST00000700145.1:c.900-4104T>A
ENST00000700146.1:n.746T>A
ENST00000700147.1:n.671T>A
ENST00000275493.7:c.3002T>A MANE Select	ENSP00000275493.2:p.Leu1001Gln
ENST00000275493.6:c.3002T>A	ENSP00000275493.2:p.Leu1001Gln
ENST00000442591.5:c.*28+28315T>A	ENSP00000410031.1:n.*28+28315T>A
ENST00000454757.6:c.2867T>A	ENSP00000395243.3:p.Leu956Gln
ENST00000455089.5:c.2867T>A	ENSP00000415559.1:p.Leu956Gln
NM_005228.3:c.3002T>A , LRG_304t1:c.3002T>A	NP_005219.2:p.Leu1001Gln
NM_001346897.1:c.2867T>A	NP_001333826.1:p.Leu956Gln
NM_001346898.1:c.3002T>A	NP_001333827.1:p.Leu1001Gln
NM_001346899.1:c.2867T>A	NP_001333828.1:p.Leu956Gln
NM_001346900.1:c.2843T>A	NP_001333829.1:p.Leu948Gln
NM_001346941.1:c.2201T>A	NP_001333870.1:p.Leu734Gln
NM_005228.4:c.3002T>A	NP_005219.2:p.Leu1001Gln
NM_005228.5:c.3002T>A MANE Select	NP_005219.2:p.Leu1001Gln
NM_001346897.2:c.2867T>A	NP_001333826.1:p.Leu956Gln
NM_001346898.2:c.3002T>A	NP_001333827.1:p.Leu1001Gln
NM_001346900.2:c.2843T>A	NP_001333829.1:p.Leu948Gln
NM_001346941.2:c.2201T>A	NP_001333870.1:p.Leu734Gln
NM_001346899.2:c.2867T>A	NP_001333828.1:p.Leu956Gln