Canonical Allele Identifier: CA16602837

Gene: EGFR

Linked Data

• ClinVar Variation Id: 376399
• ClinVar RCV Id: RCV000423114 ; RCV000429899 ; RCV000440786
• dbSNP Id: rs139236063
• COSMIC: COSM3412196 ; COSM3412197
• MyVariant Identifiers: chr7:g.55233043G>C (hg19) ; chr7:g.55165350G>C (hg38)
• PubMed: PMID:26619011

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.1634G>C	ENSP00000413354.2:p.Gly545Ala
ENST00000700145.1:c.142G>C
ENST00000344576.7:c.1793G>C	ENSP00000345973.2:p.Gly598Ala
ENST00000275493.7:c.1793G>C MANE Select	ENSP00000275493.2:p.Gly598Ala
ENST00000275493.6:c.1793G>C	ENSP00000275493.2:p.Gly598Ala
ENST00000342916.7:c.1793G>C	ENSP00000342376.3:p.Gly598Ala
ENST00000344576.6:c.1793G>C	ENSP00000345973.2:p.Gly598Ala
ENST00000442591.5:c.1793G>C	ENSP00000410031.1:p.Gly598Ala
ENST00000454757.6:c.1658G>C	ENSP00000395243.3:p.Gly553Ala
ENST00000455089.5:c.1658G>C	ENSP00000415559.1:p.Gly553Ala
NM_005228.3:c.1793G>C , LRG_304t1:c.1793G>C	NP_005219.2:p.Gly598Ala
NM_201282.1:c.1793G>C	NP_958439.1:p.Gly598Ala
NM_201284.1:c.1793G>C	NP_958441.1:p.Gly598Ala
NM_001346897.1:c.1658G>C	NP_001333826.1:p.Gly553Ala
NM_001346898.1:c.1793G>C	NP_001333827.1:p.Gly598Ala
NM_001346899.1:c.1658G>C	NP_001333828.1:p.Gly553Ala
NM_001346900.1:c.1634G>C	NP_001333829.1:p.Gly545Ala
NM_001346941.1:c.992G>C	NP_001333870.1:p.Gly331Ala
NM_005228.4:c.1793G>C	NP_005219.2:p.Gly598Ala
NM_005228.5:c.1793G>C MANE Select	NP_005219.2:p.Gly598Ala
NM_001346897.2:c.1658G>C	NP_001333826.1:p.Gly553Ala
NM_001346898.2:c.1793G>C	NP_001333827.1:p.Gly598Ala
NM_001346900.2:c.1634G>C	NP_001333829.1:p.Gly545Ala
NM_001346941.2:c.992G>C	NP_001333870.1:p.Gly331Ala
NM_201282.2:c.1793G>C	NP_958439.1:p.Gly598Ala
NM_201284.2:c.1793G>C	NP_958441.1:p.Gly598Ala
NM_001346899.2:c.1658G>C	NP_001333828.1:p.Gly553Ala