Canonical Allele Identifier: CA367580121

Gene: EGFR

Linked Data

• dbSNP Id: rs2128964425
• MyVariant Identifiers: chr7:g.55259440T>A (hg19) ; chr7:g.55191747T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191747T>A , CM000669.2:g.55191747T>A	GRCh38
NC_000007.13:g.55259440T>A , CM000669.1:g.55259440T>A	GRCh37
NC_000007.12:g.55226934T>A	NCBI36
NG_007726.3:g.177716T>A , LRG_304:g.177716T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2339T>A	ENSP00000413354.2:p.Leu780Ter
ENST00000700145.1:c.847T>A
ENST00000275493.7:c.2498T>A MANE Select	ENSP00000275493.2:p.Leu833Ter
ENST00000275493.6:c.2498T>A	ENSP00000275493.2:p.Leu833Ter
ENST00000442591.5:c.*28+18819T>A	ENSP00000410031.1:n.*28+18819T>A
ENST00000454757.6:c.2363T>A	ENSP00000395243.3:p.Leu788Ter
ENST00000455089.5:c.2363T>A	ENSP00000415559.1:p.Leu788Ter
NM_005228.3:c.2498T>A , LRG_304t1:c.2498T>A	NP_005219.2:p.Leu833Ter
NM_001346897.1:c.2363T>A	NP_001333826.1:p.Leu788Ter
NM_001346898.1:c.2498T>A	NP_001333827.1:p.Leu833Ter
NM_001346899.1:c.2363T>A	NP_001333828.1:p.Leu788Ter
NM_001346900.1:c.2339T>A	NP_001333829.1:p.Leu780Ter
NM_001346941.1:c.1697T>A	NP_001333870.1:p.Leu566Ter
NM_005228.4:c.2498T>A	NP_005219.2:p.Leu833Ter
NM_005228.5:c.2498T>A MANE Select	NP_005219.2:p.Leu833Ter
NM_001346897.2:c.2363T>A	NP_001333826.1:p.Leu788Ter
NM_001346898.2:c.2498T>A	NP_001333827.1:p.Leu833Ter
NM_001346900.2:c.2339T>A	NP_001333829.1:p.Leu780Ter
NM_001346941.2:c.1697T>A	NP_001333870.1:p.Leu566Ter
NM_001346899.2:c.2363T>A	NP_001333828.1:p.Leu788Ter