Canonical Allele Identifier: CA367582544

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1405169
• ClinVar RCV Id: RCV001927924
• dbSNP Id: rs1302295057
• gnomAD v2: 7-55268977-G-A
• gnomAD v4: 7-55201284-G-A
• MyVariant Identifiers: chr7:g.55268977G>A (hg19) ; chr7:g.55201284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201284G>A , CM000669.2:g.55201284G>A	GRCh38
NC_000007.13:g.55268977G>A , CM000669.1:g.55268977G>A	GRCh37
NC_000007.12:g.55236471G>A	NCBI36
NG_007726.3:g.187253G>A , LRG_304:g.187253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2884G>A	ENSP00000413354.2:p.Glu962Lys
ENST00000700145.1:c.900-4063G>A
ENST00000700146.1:n.787G>A
ENST00000700147.1:n.712G>A
ENST00000275493.7:c.3043G>A MANE Select	ENSP00000275493.2:p.Glu1015Lys
ENST00000275493.6:c.3043G>A	ENSP00000275493.2:p.Glu1015Lys
ENST00000442591.5:c.*28+28356G>A	ENSP00000410031.1:n.*28+28356G>A
ENST00000454757.6:c.2908G>A	ENSP00000395243.3:p.Glu970Lys
ENST00000455089.5:c.2908G>A	ENSP00000415559.1:p.Glu970Lys
NM_005228.3:c.3043G>A , LRG_304t1:c.3043G>A	NP_005219.2:p.Glu1015Lys
NM_001346897.1:c.2908G>A	NP_001333826.1:p.Glu970Lys
NM_001346898.1:c.3043G>A	NP_001333827.1:p.Glu1015Lys
NM_001346899.1:c.2908G>A	NP_001333828.1:p.Glu970Lys
NM_001346900.1:c.2884G>A	NP_001333829.1:p.Glu962Lys
NM_001346941.1:c.2242G>A	NP_001333870.1:p.Glu748Lys
NM_005228.4:c.3043G>A	NP_005219.2:p.Glu1015Lys
NM_005228.5:c.3043G>A MANE Select	NP_005219.2:p.Glu1015Lys
NM_001346897.2:c.2908G>A	NP_001333826.1:p.Glu970Lys
NM_001346898.2:c.3043G>A	NP_001333827.1:p.Glu1015Lys
NM_001346900.2:c.2884G>A	NP_001333829.1:p.Glu962Lys
NM_001346941.2:c.2242G>A	NP_001333870.1:p.Glu748Lys
NM_001346899.2:c.2908G>A	NP_001333828.1:p.Glu970Lys