Canonical Allele Identifier: CA135920

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45279
• ClinVar RCV Id: RCV000038435 ; RCV003996408
• dbSNP Id: rs397517127
• COSMIC: COSM18423
• MyVariant Identifiers: chr7:g.55259442G>T (hg19) ; chr7:g.55191749G>T (hg38)
• PubMed: PMID:16533793 ; PMID:18176089

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191749G>T , CM000669.2:g.55191749G>T	GRCh38
NC_000007.13:g.55259442G>T , CM000669.1:g.55259442G>T	GRCh37
NC_000007.12:g.55226936G>T	NCBI36
NG_007726.3:g.177718G>T , LRG_304:g.177718G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2341G>T	ENSP00000413354.2:p.Val781Leu
ENST00000700145.1:c.849G>T
ENST00000275493.7:c.2500G>T MANE Select	ENSP00000275493.2:p.Val834Leu
ENST00000275493.6:c.2500G>T	ENSP00000275493.2:p.Val834Leu
ENST00000442591.5:c.*28+18821G>T	ENSP00000410031.1:n.*28+18821G>T
ENST00000454757.6:c.2365G>T	ENSP00000395243.3:p.Val789Leu
ENST00000455089.5:c.2365G>T	ENSP00000415559.1:p.Val789Leu
NM_005228.3:c.2500G>T , LRG_304t1:c.2500G>T	NP_005219.2:p.Val834Leu
NM_001346897.1:c.2365G>T	NP_001333826.1:p.Val789Leu
NM_001346898.1:c.2500G>T	NP_001333827.1:p.Val834Leu
NM_001346899.1:c.2365G>T	NP_001333828.1:p.Val789Leu
NM_001346900.1:c.2341G>T	NP_001333829.1:p.Val781Leu
NM_001346941.1:c.1699G>T	NP_001333870.1:p.Val567Leu
NM_005228.4:c.2500G>T	NP_005219.2:p.Val834Leu
NM_005228.5:c.2500G>T MANE Select	NP_005219.2:p.Val834Leu
NM_001346897.2:c.2365G>T	NP_001333826.1:p.Val789Leu
NM_001346898.2:c.2500G>T	NP_001333827.1:p.Val834Leu
NM_001346900.2:c.2341G>T	NP_001333829.1:p.Val781Leu
NM_001346941.2:c.1699G>T	NP_001333870.1:p.Val567Leu
NM_001346899.2:c.2365G>T	NP_001333828.1:p.Val789Leu