Canonical Allele Identifier: CA16602540

Gene: EGFR

Linked Data

• ClinVar Variation Id: 376078
• ClinVar RCV Id: RCV000434054 ; RCV000442962
• dbSNP Id: rs121913430
• COSMIC: COSM13182
• MyVariant Identifiers: chr7:g.55242433G>A (hg19) ; chr7:g.55174740G>A (hg38)
• PubMed: PMID:23485129 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174740G>A , CM000669.2:g.55174740G>A	GRCh38
NC_000007.13:g.55242433G>A , CM000669.1:g.55242433G>A	GRCh37
NC_000007.12:g.55209927G>A	NCBI36
NG_007726.3:g.160709G>A , LRG_304:g.160709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2044G>A	ENSP00000413354.2:p.Gly682Ser
ENST00000700145.1:c.552G>A
ENST00000275493.7:c.2203G>A MANE Select	ENSP00000275493.2:p.Gly735Ser
ENST00000275493.6:c.2203G>A	ENSP00000275493.2:p.Gly735Ser
ENST00000442591.5:c.*28+1812G>A	ENSP00000410031.1:n.*28+1812G>A
ENST00000454757.6:c.2068G>A	ENSP00000395243.3:p.Gly690Ser
ENST00000455089.5:c.2068G>A	ENSP00000415559.1:p.Gly690Ser
NM_005228.3:c.2203G>A , LRG_304t1:c.2203G>A	NP_005219.2:p.Gly735Ser
NM_001346897.1:c.2068G>A	NP_001333826.1:p.Gly690Ser
NM_001346898.1:c.2203G>A	NP_001333827.1:p.Gly735Ser
NM_001346899.1:c.2068G>A	NP_001333828.1:p.Gly690Ser
NM_001346900.1:c.2044G>A	NP_001333829.1:p.Gly682Ser
NM_001346941.1:c.1402G>A	NP_001333870.1:p.Gly468Ser
NM_005228.4:c.2203G>A	NP_005219.2:p.Gly735Ser
NM_005228.5:c.2203G>A MANE Select	NP_005219.2:p.Gly735Ser
NM_001346897.2:c.2068G>A	NP_001333826.1:p.Gly690Ser
NM_001346898.2:c.2203G>A	NP_001333827.1:p.Gly735Ser
NM_001346900.2:c.2044G>A	NP_001333829.1:p.Gly682Ser
NM_001346941.2:c.1402G>A	NP_001333870.1:p.Gly468Ser
NM_001346899.2:c.2068G>A	NP_001333828.1:p.Gly690Ser