Canonical Allele Identifier: CA135850
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45255
ClinVar RCV Id: RCV000038411
dbSNP Id: rs147149347
COSMIC: COSM6242

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181314G>T , CM000669.2:g.55181314G>T GRCh38
NC_000007.13:g.55249007G>T , CM000669.1:g.55249007G>T GRCh37
NC_000007.12:g.55216501G>T NCBI36
NG_007726.3:g.167283G>T , LRG_304:g.167283G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2146G>T (EGFR) ENSP00000413354.2:p.Val716Leu
ENST00000700145.1:c.654G>T (EGFR)
ENST00000275493.7:c.2305G>T (EGFR) MANE Select ENSP00000275493.2:p.Val769Leu
ENST00000275493.6:c.2305G>T (EGFR) ENSP00000275493.2:p.Val769Leu
ENST00000442591.5:c.*28+8386G>T (EGFR) ENSP00000410031.1:n.*28+8386G>T
ENST00000454757.6:c.2170G>T (EGFR) ENSP00000395243.3:p.Val724Leu
ENST00000455089.5:c.2170G>T (EGFR) ENSP00000415559.1:p.Val724Leu
NM_005228.3:c.2305G>T , LRG_304t1:c.2305G>T (EGFR) NP_005219.2:p.Val769Leu
NR_047551.1:n.1257C>A (EGFR-AS1)
NM_001346897.1:c.2170G>T (EGFR) NP_001333826.1:p.Val724Leu
NM_001346898.1:c.2305G>T (EGFR) NP_001333827.1:p.Val769Leu
NM_001346899.1:c.2170G>T (EGFR) NP_001333828.1:p.Val724Leu
NM_001346900.1:c.2146G>T (EGFR) NP_001333829.1:p.Val716Leu
NM_001346941.1:c.1504G>T (EGFR) NP_001333870.1:p.Val502Leu
NM_005228.4:c.2305G>T (EGFR) NP_005219.2:p.Val769Leu
NM_005228.5:c.2305G>T (EGFR) MANE Select NP_005219.2:p.Val769Leu
NM_001346897.2:c.2170G>T (EGFR) NP_001333826.1:p.Val724Leu
NM_001346898.2:c.2305G>T (EGFR) NP_001333827.1:p.Val769Leu
NM_001346900.2:c.2146G>T (EGFR) NP_001333829.1:p.Val716Leu
NM_001346941.2:c.1504G>T (EGFR) NP_001333870.1:p.Val502Leu
NM_001346899.2:c.2170G>T (EGFR) NP_001333828.1:p.Val724Leu