Canonical Allele Identifier: CA367580231

Gene: EGFR

Linked Data

• dbSNP Id: rs2128964564
• COSMIC: COSM13195
• MyVariant Identifiers: chr7:g.55259494T>C (hg19) ; chr7:g.55191801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191801T>C , CM000669.2:g.55191801T>C	GRCh38
NC_000007.13:g.55259494T>C , CM000669.1:g.55259494T>C	GRCh37
NC_000007.12:g.55226988T>C	NCBI36
NG_007726.3:g.177770T>C , LRG_304:g.177770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2393T>C	ENSP00000413354.2:p.Val798Ala
ENST00000700145.1:c.899+2T>C
ENST00000275493.7:c.2552T>C MANE Select	ENSP00000275493.2:p.Val851Ala
ENST00000275493.6:c.2552T>C	ENSP00000275493.2:p.Val851Ala
ENST00000442591.5:c.*28+18873T>C	ENSP00000410031.1:n.*28+18873T>C
ENST00000454757.6:c.2417T>C	ENSP00000395243.3:p.Val806Ala
ENST00000455089.5:c.2417T>C	ENSP00000415559.1:p.Val806Ala
NM_005228.3:c.2552T>C , LRG_304t1:c.2552T>C	NP_005219.2:p.Val851Ala
NM_001346897.1:c.2417T>C	NP_001333826.1:p.Val806Ala
NM_001346898.1:c.2552T>C	NP_001333827.1:p.Val851Ala
NM_001346899.1:c.2417T>C	NP_001333828.1:p.Val806Ala
NM_001346900.1:c.2393T>C	NP_001333829.1:p.Val798Ala
NM_001346941.1:c.1751T>C	NP_001333870.1:p.Val584Ala
NM_005228.4:c.2552T>C	NP_005219.2:p.Val851Ala
NM_005228.5:c.2552T>C MANE Select	NP_005219.2:p.Val851Ala
NM_001346897.2:c.2417T>C	NP_001333826.1:p.Val806Ala
NM_001346898.2:c.2552T>C	NP_001333827.1:p.Val851Ala
NM_001346900.2:c.2393T>C	NP_001333829.1:p.Val798Ala
NM_001346941.2:c.1751T>C	NP_001333870.1:p.Val584Ala
NM_001346899.2:c.2417T>C	NP_001333828.1:p.Val806Ala