Canonical Allele Identifier: CA135778

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45226
• ClinVar RCV Id: RCV000038382 ; RCV000897712 ; RCV003476915
• dbSNP Id: rs367694667
• ExAC: 7:55241718 G / A
• gnomAD v2: 7-55241718-G-A
• gnomAD v3: 7-55174025-G-A
• gnomAD v4: 7-55174025-G-A
• COSMIC: COSM1090886
• MyVariant Identifiers: chr7:g.55241718G>A (hg19) ; chr7:g.55174025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174025G>A , CM000669.2:g.55174025G>A	GRCh38
NC_000007.13:g.55241718G>A , CM000669.1:g.55241718G>A	GRCh37
NC_000007.12:g.55209212G>A	NCBI36
NG_007726.3:g.159994G>A , LRG_304:g.159994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2007G>A	ENSP00000413354.2:p.Ala669=
ENST00000700145.1:c.515G>A
ENST00000275493.7:c.2166G>A MANE Select	ENSP00000275493.2:p.Ala722=
ENST00000275493.6:c.2166G>A	ENSP00000275493.2:p.Ala722=
ENST00000442591.5:c.*28+1097G>A	ENSP00000410031.1:n.*28+1097G>A
ENST00000454757.6:c.2031G>A	ENSP00000395243.3:p.Ala677=
ENST00000455089.5:c.2031G>A	ENSP00000415559.1:p.Ala677=
NM_005228.3:c.2166G>A , LRG_304t1:c.2166G>A	NP_005219.2:p.Ala722=
NM_001346897.1:c.2031G>A	NP_001333826.1:p.Ala677=
NM_001346898.1:c.2166G>A	NP_001333827.1:p.Ala722=
NM_001346899.1:c.2031G>A	NP_001333828.1:p.Ala677=
NM_001346900.1:c.2007G>A	NP_001333829.1:p.Ala669=
NM_001346941.1:c.1365G>A	NP_001333870.1:p.Ala455=
NM_005228.4:c.2166G>A	NP_005219.2:p.Ala722=
NM_005228.5:c.2166G>A MANE Select	NP_005219.2:p.Ala722=
NM_001346897.2:c.2031G>A	NP_001333826.1:p.Ala677=
NM_001346898.2:c.2166G>A	NP_001333827.1:p.Ala722=
NM_001346900.2:c.2007G>A	NP_001333829.1:p.Ala669=
NM_001346941.2:c.1365G>A	NP_001333870.1:p.Ala455=
NM_001346899.2:c.2031G>A	NP_001333828.1:p.Ala677=