Canonical Allele Identifier: CA367582386

Gene: EGFR

Linked Data

• ClinVar Variation Id: 2831997
• ClinVar RCV Id: RCV003651200
• dbSNP Id: rs1787831699
• gnomAD v4: 7-55201213-G-A
• MyVariant Identifiers: chr7:g.55268906G>A (hg19) ; chr7:g.55201213G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201213G>A , CM000669.2:g.55201213G>A	GRCh38
NC_000007.13:g.55268906G>A , CM000669.1:g.55268906G>A	GRCh37
NC_000007.12:g.55236400G>A	NCBI36
NG_007726.3:g.187182G>A , LRG_304:g.187182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2813G>A	ENSP00000413354.2:p.Ser938Asn
ENST00000700145.1:c.900-4134G>A
ENST00000700146.1:n.716G>A
ENST00000700147.1:n.641G>A
ENST00000275493.7:c.2972G>A MANE Select	ENSP00000275493.2:p.Ser991Asn
ENST00000275493.6:c.2972G>A	ENSP00000275493.2:p.Ser991Asn
ENST00000442591.5:c.*28+28285G>A	ENSP00000410031.1:n.*28+28285G>A
ENST00000454757.6:c.2837G>A	ENSP00000395243.3:p.Ser946Asn
ENST00000455089.5:c.2837G>A	ENSP00000415559.1:p.Ser946Asn
NM_005228.3:c.2972G>A , LRG_304t1:c.2972G>A	NP_005219.2:p.Ser991Asn
NM_001346897.1:c.2837G>A	NP_001333826.1:p.Ser946Asn
NM_001346898.1:c.2972G>A	NP_001333827.1:p.Ser991Asn
NM_001346899.1:c.2837G>A	NP_001333828.1:p.Ser946Asn
NM_001346900.1:c.2813G>A	NP_001333829.1:p.Ser938Asn
NM_001346941.1:c.2171G>A	NP_001333870.1:p.Ser724Asn
NM_005228.4:c.2972G>A	NP_005219.2:p.Ser991Asn
NM_005228.5:c.2972G>A MANE Select	NP_005219.2:p.Ser991Asn
NM_001346897.2:c.2837G>A	NP_001333826.1:p.Ser946Asn
NM_001346898.2:c.2972G>A	NP_001333827.1:p.Ser991Asn
NM_001346900.2:c.2813G>A	NP_001333829.1:p.Ser938Asn
NM_001346941.2:c.2171G>A	NP_001333870.1:p.Ser724Asn
NM_001346899.2:c.2837G>A	NP_001333828.1:p.Ser946Asn