Canonical Allele Identifier: CA367582397

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1514742
• ClinVar RCV Id: RCV002029518
• dbSNP Id: rs2128971521
• MyVariant Identifiers: chr7:g.55268911A>C (hg19) ; chr7:g.55201218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201218A>C , CM000669.2:g.55201218A>C	GRCh38
NC_000007.13:g.55268911A>C , CM000669.1:g.55268911A>C	GRCh37
NC_000007.12:g.55236405A>C	NCBI36
NG_007726.3:g.187187A>C , LRG_304:g.187187A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2818A>C	ENSP00000413354.2:p.Thr940Pro
ENST00000700145.1:c.900-4129A>C
ENST00000700146.1:n.721A>C
ENST00000700147.1:n.646A>C
ENST00000275493.7:c.2977A>C MANE Select	ENSP00000275493.2:p.Thr993Pro
ENST00000275493.6:c.2977A>C	ENSP00000275493.2:p.Thr993Pro
ENST00000442591.5:c.*28+28290A>C	ENSP00000410031.1:n.*28+28290A>C
ENST00000454757.6:c.2842A>C	ENSP00000395243.3:p.Thr948Pro
ENST00000455089.5:c.2842A>C	ENSP00000415559.1:p.Thr948Pro
NM_005228.3:c.2977A>C , LRG_304t1:c.2977A>C	NP_005219.2:p.Thr993Pro
NM_001346897.1:c.2842A>C	NP_001333826.1:p.Thr948Pro
NM_001346898.1:c.2977A>C	NP_001333827.1:p.Thr993Pro
NM_001346899.1:c.2842A>C	NP_001333828.1:p.Thr948Pro
NM_001346900.1:c.2818A>C	NP_001333829.1:p.Thr940Pro
NM_001346941.1:c.2176A>C	NP_001333870.1:p.Thr726Pro
NM_005228.4:c.2977A>C	NP_005219.2:p.Thr993Pro
NM_005228.5:c.2977A>C MANE Select	NP_005219.2:p.Thr993Pro
NM_001346897.2:c.2842A>C	NP_001333826.1:p.Thr948Pro
NM_001346898.2:c.2977A>C	NP_001333827.1:p.Thr993Pro
NM_001346900.2:c.2818A>C	NP_001333829.1:p.Thr940Pro
NM_001346941.2:c.2176A>C	NP_001333870.1:p.Thr726Pro
NM_001346899.2:c.2842A>C	NP_001333828.1:p.Thr948Pro