Canonical Allele Identifier: CA135812

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45239
• ClinVar RCV Id: RCV000038395 ; RCV000425827 ; RCV000442888
• dbSNP Id: rs121913229
• COSMIC: COSM6219
• MyVariant Identifiers: chr7:g.55242478G>C (hg19) ; chr7:g.55174785G>C (hg38)
• PubMed: PMID:15737014 ; PMID:22622260 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174785G>C , CM000669.2:g.55174785G>C	GRCh38
NC_000007.13:g.55242478G>C , CM000669.1:g.55242478G>C	GRCh37
NC_000007.12:g.55209972G>C	NCBI36
NG_007726.3:g.160754G>C , LRG_304:g.160754G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2089G>C	ENSP00000413354.2:p.Ala697Pro
ENST00000700145.1:c.597G>C
ENST00000275493.7:c.2248G>C MANE Select	ENSP00000275493.2:p.Ala750Pro
ENST00000275493.6:c.2248G>C	ENSP00000275493.2:p.Ala750Pro
ENST00000442591.5:c.*28+1857G>C	ENSP00000410031.1:n.*28+1857G>C
ENST00000454757.6:c.2113G>C	ENSP00000395243.3:p.Ala705Pro
ENST00000455089.5:c.2113G>C	ENSP00000415559.1:p.Ala705Pro
NM_005228.3:c.2248G>C , LRG_304t1:c.2248G>C	NP_005219.2:p.Ala750Pro
NM_001346897.1:c.2113G>C	NP_001333826.1:p.Ala705Pro
NM_001346898.1:c.2248G>C	NP_001333827.1:p.Ala750Pro
NM_001346899.1:c.2113G>C	NP_001333828.1:p.Ala705Pro
NM_001346900.1:c.2089G>C	NP_001333829.1:p.Ala697Pro
NM_001346941.1:c.1447G>C	NP_001333870.1:p.Ala483Pro
NM_005228.4:c.2248G>C	NP_005219.2:p.Ala750Pro
NM_005228.5:c.2248G>C MANE Select	NP_005219.2:p.Ala750Pro
NM_001346897.2:c.2113G>C	NP_001333826.1:p.Ala705Pro
NM_001346898.2:c.2248G>C	NP_001333827.1:p.Ala750Pro
NM_001346900.2:c.2089G>C	NP_001333829.1:p.Ala697Pro
NM_001346941.2:c.1447G>C	NP_001333870.1:p.Ala483Pro
NM_001346899.2:c.2113G>C	NP_001333828.1:p.Ala705Pro