Canonical Allele Identifier: CA4265696

Gene: EGFR

Linked Data

• ClinVar Variation Id: 376210
• ClinVar RCV Id: RCV000418494 ; RCV000434448 ; RCV000436167
• dbSNP Id: rs139236063
• ExAC: 7:55233043 G / T
• gnomAD v2: 7-55233043-G-T
• COSMIC: COSM21690 ; COSM1187304 ; COSM4967213
• MyVariant Identifiers: chr7:g.55233043G>T (hg19) ; chr7:g.55165350G>T (hg38)
• PubMed: PMID:17177598 ; PMID:26619011
• CIViC: CA4265696

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55165350G>T , CM000669.2:g.55165350G>T	GRCh38
NC_000007.13:g.55233043G>T , CM000669.1:g.55233043G>T	GRCh37
NC_000007.12:g.55200537G>T	NCBI36
NG_007726.3:g.151319G>T , LRG_304:g.151319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.1634G>T	ENSP00000413354.2:p.Gly545Val
ENST00000700145.1:c.142G>T
ENST00000344576.7:c.1793G>T	ENSP00000345973.2:p.Gly598Val
ENST00000275493.7:c.1793G>T MANE Select	ENSP00000275493.2:p.Gly598Val
ENST00000275493.6:c.1793G>T	ENSP00000275493.2:p.Gly598Val
ENST00000342916.7:c.1793G>T	ENSP00000342376.3:p.Gly598Val
ENST00000344576.6:c.1793G>T	ENSP00000345973.2:p.Gly598Val
ENST00000442591.5:c.1793G>T	ENSP00000410031.1:p.Gly598Val
ENST00000454757.6:c.1658G>T	ENSP00000395243.3:p.Gly553Val
ENST00000455089.5:c.1658G>T	ENSP00000415559.1:p.Gly553Val
NM_005228.3:c.1793G>T , LRG_304t1:c.1793G>T	NP_005219.2:p.Gly598Val
NM_201282.1:c.1793G>T	NP_958439.1:p.Gly598Val
NM_201284.1:c.1793G>T	NP_958441.1:p.Gly598Val
NM_001346897.1:c.1658G>T	NP_001333826.1:p.Gly553Val
NM_001346898.1:c.1793G>T	NP_001333827.1:p.Gly598Val
NM_001346899.1:c.1658G>T	NP_001333828.1:p.Gly553Val
NM_001346900.1:c.1634G>T	NP_001333829.1:p.Gly545Val
NM_001346941.1:c.992G>T	NP_001333870.1:p.Gly331Val
NM_005228.4:c.1793G>T	NP_005219.2:p.Gly598Val
NM_005228.5:c.1793G>T MANE Select	NP_005219.2:p.Gly598Val
NM_001346897.2:c.1658G>T	NP_001333826.1:p.Gly553Val
NM_001346898.2:c.1793G>T	NP_001333827.1:p.Gly598Val
NM_001346900.2:c.1634G>T	NP_001333829.1:p.Gly545Val
NM_001346941.2:c.992G>T	NP_001333870.1:p.Gly331Val
NM_201282.2:c.1793G>T	NP_958439.1:p.Gly598Val
NM_201284.2:c.1793G>T	NP_958441.1:p.Gly598Val
NM_001346899.2:c.1658G>T	NP_001333828.1:p.Gly553Val