Canonical Allele Identifier: CA4266241

Gene: EGFR

Linked Data

• ClinVar Variation Id: 953825
• ClinVar RCV Id: RCV001226176
• dbSNP Id: rs148019583
• ExAC: 7:55268959 G / A
• gnomAD v2: 7-55268959-G-A
• gnomAD v3: 7-55201266-G-A
• gnomAD v4: 7-55201266-G-A
• COSMIC: COSM3639757
• MyVariant Identifiers: chr7:g.55268959G>A (hg19) ; chr7:g.55201266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201266G>A , CM000669.2:g.55201266G>A	GRCh38
NC_000007.13:g.55268959G>A , CM000669.1:g.55268959G>A	GRCh37
NC_000007.12:g.55236453G>A	NCBI36
NG_007726.3:g.187235G>A , LRG_304:g.187235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2866G>A	ENSP00000413354.2:p.Asp956Asn
ENST00000700145.1:c.900-4081G>A
ENST00000700146.1:n.769G>A
ENST00000700147.1:n.694G>A
ENST00000275493.7:c.3025G>A MANE Select	ENSP00000275493.2:p.Asp1009Asn
ENST00000275493.6:c.3025G>A	ENSP00000275493.2:p.Asp1009Asn
ENST00000442591.5:c.*28+28338G>A	ENSP00000410031.1:n.*28+28338G>A
ENST00000454757.6:c.2890G>A	ENSP00000395243.3:p.Asp964Asn
ENST00000455089.5:c.2890G>A	ENSP00000415559.1:p.Asp964Asn
NM_005228.3:c.3025G>A , LRG_304t1:c.3025G>A	NP_005219.2:p.Asp1009Asn
NM_001346897.1:c.2890G>A	NP_001333826.1:p.Asp964Asn
NM_001346898.1:c.3025G>A	NP_001333827.1:p.Asp1009Asn
NM_001346899.1:c.2890G>A	NP_001333828.1:p.Asp964Asn
NM_001346900.1:c.2866G>A	NP_001333829.1:p.Asp956Asn
NM_001346941.1:c.2224G>A	NP_001333870.1:p.Asp742Asn
NM_005228.4:c.3025G>A	NP_005219.2:p.Asp1009Asn
NM_005228.5:c.3025G>A MANE Select	NP_005219.2:p.Asp1009Asn
NM_001346897.2:c.2890G>A	NP_001333826.1:p.Asp964Asn
NM_001346898.2:c.3025G>A	NP_001333827.1:p.Asp1009Asn
NM_001346900.2:c.2866G>A	NP_001333829.1:p.Asp956Asn
NM_001346941.2:c.2224G>A	NP_001333870.1:p.Asp742Asn
NM_001346899.2:c.2890G>A	NP_001333828.1:p.Asp964Asn