Canonical Allele Identifier: CA367580217

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1349155
• ClinVar RCV Id: RCV002050992
• dbSNP Id: rs1433831615
• gnomAD v4: 7-55191796-G-C
• MyVariant Identifiers: chr7:g.55259489G>C (hg19) ; chr7:g.55191796G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191796G>C , CM000669.2:g.55191796G>C	GRCh38
NC_000007.13:g.55259489G>C , CM000669.1:g.55259489G>C	GRCh37
NC_000007.12:g.55226983G>C	NCBI36
NG_007726.3:g.177765G>C , LRG_304:g.177765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2388G>C	ENSP00000413354.2:p.Gln796His
ENST00000700145.1:c.896G>C
ENST00000275493.7:c.2547G>C MANE Select	ENSP00000275493.2:p.Gln849His
ENST00000275493.6:c.2547G>C	ENSP00000275493.2:p.Gln849His
ENST00000442591.5:c.*28+18868G>C	ENSP00000410031.1:n.*28+18868G>C
ENST00000454757.6:c.2412G>C	ENSP00000395243.3:p.Gln804His
ENST00000455089.5:c.2412G>C	ENSP00000415559.1:p.Gln804His
NM_005228.3:c.2547G>C , LRG_304t1:c.2547G>C	NP_005219.2:p.Gln849His
NM_001346897.1:c.2412G>C	NP_001333826.1:p.Gln804His
NM_001346898.1:c.2547G>C	NP_001333827.1:p.Gln849His
NM_001346899.1:c.2412G>C	NP_001333828.1:p.Gln804His
NM_001346900.1:c.2388G>C	NP_001333829.1:p.Gln796His
NM_001346941.1:c.1746G>C	NP_001333870.1:p.Gln582His
NM_005228.4:c.2547G>C	NP_005219.2:p.Gln849His
NM_005228.5:c.2547G>C MANE Select	NP_005219.2:p.Gln849His
NM_001346897.2:c.2412G>C	NP_001333826.1:p.Gln804His
NM_001346898.2:c.2547G>C	NP_001333827.1:p.Gln849His
NM_001346900.2:c.2388G>C	NP_001333829.1:p.Gln796His
NM_001346941.2:c.1746G>C	NP_001333870.1:p.Gln582His
NM_001346899.2:c.2412G>C	NP_001333828.1:p.Gln804His