Canonical Allele Identifier: CA367582402

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1395595
• ClinVar RCV Id: RCV001901213
• dbSNP Id: rs2128971524
• gnomAD v4: 7-55201219-C-T
• MyVariant Identifiers: chr7:g.55268912C>T (hg19) ; chr7:g.55201219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201219C>T , CM000669.2:g.55201219C>T	GRCh38
NC_000007.13:g.55268912C>T , CM000669.1:g.55268912C>T	GRCh37
NC_000007.12:g.55236406C>T	NCBI36
NG_007726.3:g.187188C>T , LRG_304:g.187188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2819C>T	ENSP00000413354.2:p.Thr940Ile
ENST00000700145.1:c.900-4128C>T
ENST00000700146.1:n.722C>T
ENST00000700147.1:n.647C>T
ENST00000275493.7:c.2978C>T MANE Select	ENSP00000275493.2:p.Thr993Ile
ENST00000275493.6:c.2978C>T	ENSP00000275493.2:p.Thr993Ile
ENST00000442591.5:c.*28+28291C>T	ENSP00000410031.1:n.*28+28291C>T
ENST00000454757.6:c.2843C>T	ENSP00000395243.3:p.Thr948Ile
ENST00000455089.5:c.2843C>T	ENSP00000415559.1:p.Thr948Ile
NM_005228.3:c.2978C>T , LRG_304t1:c.2978C>T	NP_005219.2:p.Thr993Ile
NM_001346897.1:c.2843C>T	NP_001333826.1:p.Thr948Ile
NM_001346898.1:c.2978C>T	NP_001333827.1:p.Thr993Ile
NM_001346899.1:c.2843C>T	NP_001333828.1:p.Thr948Ile
NM_001346900.1:c.2819C>T	NP_001333829.1:p.Thr940Ile
NM_001346941.1:c.2177C>T	NP_001333870.1:p.Thr726Ile
NM_005228.4:c.2978C>T	NP_005219.2:p.Thr993Ile
NM_005228.5:c.2978C>T MANE Select	NP_005219.2:p.Thr993Ile
NM_001346897.2:c.2843C>T	NP_001333826.1:p.Thr948Ile
NM_001346898.2:c.2978C>T	NP_001333827.1:p.Thr993Ile
NM_001346900.2:c.2819C>T	NP_001333829.1:p.Thr940Ile
NM_001346941.2:c.2177C>T	NP_001333870.1:p.Thr726Ile
NM_001346899.2:c.2843C>T	NP_001333828.1:p.Thr948Ile