Canonical Allele Identifier: CA16602538

Gene: EGFR

Linked Data

• ClinVar Variation Id: 376076
• ClinVar RCV Id: RCV000428149 ; RCV000441469
• dbSNP Id: rs121913446
• COSMIC: COSM13181
• MyVariant Identifiers: chr7:g.55242428C>T (hg19) ; chr7:g.55174735C>T (hg38)
• PubMed: PMID:23485129 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174735C>T , CM000669.2:g.55174735C>T	GRCh38
NC_000007.13:g.55242428C>T , CM000669.1:g.55242428C>T	GRCh37
NC_000007.12:g.55209922C>T	NCBI36
NG_007726.3:g.160704C>T , LRG_304:g.160704C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2039C>T	ENSP00000413354.2:p.Pro680Leu
ENST00000700145.1:c.547C>T
ENST00000275493.7:c.2198C>T MANE Select	ENSP00000275493.2:p.Pro733Leu
ENST00000275493.6:c.2198C>T	ENSP00000275493.2:p.Pro733Leu
ENST00000442591.5:c.*28+1807C>T	ENSP00000410031.1:n.*28+1807C>T
ENST00000454757.6:c.2063C>T	ENSP00000395243.3:p.Pro688Leu
ENST00000455089.5:c.2063C>T	ENSP00000415559.1:p.Pro688Leu
NM_005228.3:c.2198C>T , LRG_304t1:c.2198C>T	NP_005219.2:p.Pro733Leu
NM_001346897.1:c.2063C>T	NP_001333826.1:p.Pro688Leu
NM_001346898.1:c.2198C>T	NP_001333827.1:p.Pro733Leu
NM_001346899.1:c.2063C>T	NP_001333828.1:p.Pro688Leu
NM_001346900.1:c.2039C>T	NP_001333829.1:p.Pro680Leu
NM_001346941.1:c.1397C>T	NP_001333870.1:p.Pro466Leu
NM_005228.4:c.2198C>T	NP_005219.2:p.Pro733Leu
NM_005228.5:c.2198C>T MANE Select	NP_005219.2:p.Pro733Leu
NM_001346897.2:c.2063C>T	NP_001333826.1:p.Pro688Leu
NM_001346898.2:c.2198C>T	NP_001333827.1:p.Pro733Leu
NM_001346900.2:c.2039C>T	NP_001333829.1:p.Pro680Leu
NM_001346941.2:c.1397C>T	NP_001333870.1:p.Pro466Leu
NM_001346899.2:c.2063C>T	NP_001333828.1:p.Pro688Leu