Canonical Allele Identifier: CA367580280

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1987003
• ClinVar RCV Id: RCV002770952 ; RCV003151420
• dbSNP Id: rs2128964620
• MyVariant Identifiers: chr7:g.55259517G>T (hg19) ; chr7:g.55191824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191824G>T , CM000669.2:g.55191824G>T	GRCh38
NC_000007.13:g.55259517G>T , CM000669.1:g.55259517G>T	GRCh37
NC_000007.12:g.55227011G>T	NCBI36
NG_007726.3:g.177793G>T , LRG_304:g.177793G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2416G>T	ENSP00000413354.2:p.Ala806Ser
ENST00000700145.1:c.899+25G>T
ENST00000275493.7:c.2575G>T MANE Select	ENSP00000275493.2:p.Ala859Ser
ENST00000275493.6:c.2575G>T	ENSP00000275493.2:p.Ala859Ser
ENST00000442591.5:c.*28+18896G>T	ENSP00000410031.1:n.*28+18896G>T
ENST00000454757.6:c.2440G>T	ENSP00000395243.3:p.Ala814Ser
ENST00000455089.5:c.2440G>T	ENSP00000415559.1:p.Ala814Ser
NM_005228.3:c.2575G>T , LRG_304t1:c.2575G>T	NP_005219.2:p.Ala859Ser
NM_001346897.1:c.2440G>T	NP_001333826.1:p.Ala814Ser
NM_001346898.1:c.2575G>T	NP_001333827.1:p.Ala859Ser
NM_001346899.1:c.2440G>T	NP_001333828.1:p.Ala814Ser
NM_001346900.1:c.2416G>T	NP_001333829.1:p.Ala806Ser
NM_001346941.1:c.1774G>T	NP_001333870.1:p.Ala592Ser
NM_005228.4:c.2575G>T	NP_005219.2:p.Ala859Ser
NM_005228.5:c.2575G>T MANE Select	NP_005219.2:p.Ala859Ser
NM_001346897.2:c.2440G>T	NP_001333826.1:p.Ala814Ser
NM_001346898.2:c.2575G>T	NP_001333827.1:p.Ala859Ser
NM_001346900.2:c.2416G>T	NP_001333829.1:p.Ala806Ser
NM_001346941.2:c.1774G>T	NP_001333870.1:p.Ala592Ser
NM_001346899.2:c.2440G>T	NP_001333828.1:p.Ala814Ser