Canonical Allele Identifier: CA158912259

Gene: EGFR

Linked Data

• ClinVar Variation Id: 943452
• ClinVar RCV Id: RCV001213643 ; RCV003492230
• dbSNP Id: rs1020654485
• gnomAD v2: 7-55221825-C-T
• gnomAD v4: 7-55154132-C-T
• MyVariant Identifiers: chr7:g.55221825C>T (hg19) ; chr7:g.55154132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55154132C>T , CM000669.2:g.55154132C>T	GRCh38
NC_000007.13:g.55221825C>T , CM000669.1:g.55221825C>T	GRCh37
NC_000007.12:g.55189319C>T	NCBI36
NG_007726.3:g.140101C>T , LRG_304:g.140101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.710C>T	ENSP00000413354.2:p.Thr237Ile
ENST00000700144.1:n.1059C>T
ENST00000344576.7:c.869C>T	ENSP00000345973.2:p.Thr290Ile
ENST00000275493.7:c.869C>T MANE Select	ENSP00000275493.2:p.Thr290Ile
ENST00000275493.6:c.869C>T	ENSP00000275493.2:p.Thr290Ile
ENST00000342916.7:c.869C>T	ENSP00000342376.3:p.Thr290Ile
ENST00000344576.6:c.869C>T	ENSP00000345973.2:p.Thr290Ile
ENST00000420316.6:c.869C>T	ENSP00000413843.2:p.Thr290Ile
ENST00000442591.5:c.869C>T	ENSP00000410031.1:p.Thr290Ile
ENST00000454757.6:c.734C>T	ENSP00000395243.3:p.Thr245Ile
ENST00000455089.5:c.734C>T	ENSP00000415559.1:p.Thr245Ile
NM_005228.3:c.869C>T , LRG_304t1:c.869C>T	NP_005219.2:p.Thr290Ile
NM_201282.1:c.869C>T	NP_958439.1:p.Thr290Ile
NM_201283.1:c.869C>T	NP_958440.1:p.Thr290Ile
NM_201284.1:c.869C>T	NP_958441.1:p.Thr290Ile
NM_001346897.1:c.734C>T	NP_001333826.1:p.Thr245Ile
NM_001346898.1:c.869C>T	NP_001333827.1:p.Thr290Ile
NM_001346899.1:c.734C>T	NP_001333828.1:p.Thr245Ile
NM_001346900.1:c.710C>T	NP_001333829.1:p.Thr237Ile
NM_001346941.1:c.89-1698C>T	NP_001333870.1:n.89-1698C>T
NM_005228.4:c.869C>T	NP_005219.2:p.Thr290Ile
NM_005228.5:c.869C>T MANE Select	NP_005219.2:p.Thr290Ile
NM_001346897.2:c.734C>T	NP_001333826.1:p.Thr245Ile
NM_001346898.2:c.869C>T	NP_001333827.1:p.Thr290Ile
NM_001346900.2:c.710C>T	NP_001333829.1:p.Thr237Ile
NM_001346941.2:c.89-1698C>T	NP_001333870.1:n.89-1698C>T
NM_201282.2:c.869C>T	NP_958439.1:p.Thr290Ile
NM_201284.2:c.869C>T	NP_958441.1:p.Thr290Ile
NM_001346899.2:c.734C>T	NP_001333828.1:p.Thr245Ile
NM_201283.2:c.869C>T	NP_958440.1:p.Thr290Ile