Canonical Allele Identifier: CA4265362

Gene: EGFR

Linked Data

• ClinVar Variation Id: 971242
• ClinVar RCV Id: RCV001246984
• dbSNP Id: rs766478921
• ExAC: 7:55221732 C / T
• gnomAD v2: 7-55221732-C-T
• gnomAD v4: 7-55154039-C-T
• MyVariant Identifiers: chr7:g.55221732C>T (hg19) ; chr7:g.55154039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55154039C>T , CM000669.2:g.55154039C>T	GRCh38
NC_000007.13:g.55221732C>T , CM000669.1:g.55221732C>T	GRCh37
NC_000007.12:g.55189226C>T	NCBI36
NG_007726.3:g.140008C>T , LRG_304:g.140008C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.617C>T	ENSP00000413354.2:p.Thr206Met
ENST00000700144.1:n.966C>T
ENST00000344576.7:c.776C>T	ENSP00000345973.2:p.Thr259Met
ENST00000275493.7:c.776C>T MANE Select	ENSP00000275493.2:p.Thr259Met
ENST00000275493.6:c.776C>T	ENSP00000275493.2:p.Thr259Met
ENST00000342916.7:c.776C>T	ENSP00000342376.3:p.Thr259Met
ENST00000344576.6:c.776C>T	ENSP00000345973.2:p.Thr259Met
ENST00000420316.6:c.776C>T	ENSP00000413843.2:p.Thr259Met
ENST00000442591.5:c.776C>T	ENSP00000410031.1:p.Thr259Met
ENST00000454757.6:c.641C>T	ENSP00000395243.3:p.Thr214Met
ENST00000455089.5:c.641C>T	ENSP00000415559.1:p.Thr214Met
NM_005228.3:c.776C>T , LRG_304t1:c.776C>T	NP_005219.2:p.Thr259Met
NM_201282.1:c.776C>T	NP_958439.1:p.Thr259Met
NM_201283.1:c.776C>T	NP_958440.1:p.Thr259Met
NM_201284.1:c.776C>T	NP_958441.1:p.Thr259Met
NM_001346897.1:c.641C>T	NP_001333826.1:p.Thr214Met
NM_001346898.1:c.776C>T	NP_001333827.1:p.Thr259Met
NM_001346899.1:c.641C>T	NP_001333828.1:p.Thr214Met
NM_001346900.1:c.617C>T	NP_001333829.1:p.Thr206Met
NM_001346941.1:c.89-1791C>T	NP_001333870.1:n.89-1791C>T
NM_005228.4:c.776C>T	NP_005219.2:p.Thr259Met
NM_005228.5:c.776C>T MANE Select	NP_005219.2:p.Thr259Met
NM_001346897.2:c.641C>T	NP_001333826.1:p.Thr214Met
NM_001346898.2:c.776C>T	NP_001333827.1:p.Thr259Met
NM_001346900.2:c.617C>T	NP_001333829.1:p.Thr206Met
NM_001346941.2:c.89-1791C>T	NP_001333870.1:n.89-1791C>T
NM_201282.2:c.776C>T	NP_958439.1:p.Thr259Met
NM_201284.2:c.776C>T	NP_958441.1:p.Thr259Met
NM_001346899.2:c.641C>T	NP_001333828.1:p.Thr214Met
NM_201283.2:c.776C>T	NP_958440.1:p.Thr259Met