Canonical Allele Identifier: CA454968558
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128971597
MyVariant Identifiers: chr7:g.55268946A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201253A>G , CM000669.2:g.55201253A>G GRCh38
NC_000007.13:g.55268946A>G , CM000669.1:g.55268946A>G GRCh37
NC_000007.12:g.55236440A>G NCBI36
NG_007726.3:g.187222A>G , LRG_304:g.187222A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2853A>G ENSP00000413354.2:p.Glu951=
ENST00000700145.1:c.900-4094A>G
ENST00000700146.1:n.756A>G
ENST00000700147.1:n.681A>G
ENST00000275493.7:c.3012A>G MANE Select ENSP00000275493.2:p.Glu1004=
ENST00000275493.6:c.3012A>G ENSP00000275493.2:p.Glu1004=
ENST00000442591.5:c.*28+28325A>G ENSP00000410031.1:n.*28+28325A>G
ENST00000454757.6:c.2877A>G ENSP00000395243.3:p.Glu959=
ENST00000455089.5:c.2877A>G ENSP00000415559.1:p.Glu959=
NM_005228.3:c.3012A>G , LRG_304t1:c.3012A>G NP_005219.2:p.Glu1004=
NM_001346897.1:c.2877A>G NP_001333826.1:p.Glu959=
NM_001346898.1:c.3012A>G NP_001333827.1:p.Glu1004=
NM_001346899.1:c.2877A>G NP_001333828.1:p.Glu959=
NM_001346900.1:c.2853A>G NP_001333829.1:p.Glu951=
NM_001346941.1:c.2211A>G NP_001333870.1:p.Glu737=
NM_005228.4:c.3012A>G NP_005219.2:p.Glu1004=
NM_005228.5:c.3012A>G MANE Select NP_005219.2:p.Glu1004=
NM_001346897.2:c.2877A>G NP_001333826.1:p.Glu959=
NM_001346898.2:c.3012A>G NP_001333827.1:p.Glu1004=
NM_001346900.2:c.2853A>G NP_001333829.1:p.Glu951=
NM_001346941.2:c.2211A>G NP_001333870.1:p.Glu737=
NM_001346899.2:c.2877A>G NP_001333828.1:p.Glu959=