Canonical Allele Identifier: CA454979317
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2086637
ClinVar RCV Id: RCV003007584
dbSNP Id: rs2128954616
MyVariant Identifiers: chr7:g.55242438G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174745G>A , CM000669.2:g.55174745G>A GRCh38
NC_000007.13:g.55242438G>A , CM000669.1:g.55242438G>A GRCh37
NC_000007.12:g.55209932G>A NCBI36
NG_007726.3:g.160714G>A , LRG_304:g.160714G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2049G>A ENSP00000413354.2:p.Glu683=
ENST00000700145.1:c.557G>A
ENST00000275493.7:c.2208G>A MANE Select ENSP00000275493.2:p.Glu736=
ENST00000275493.6:c.2208G>A ENSP00000275493.2:p.Glu736=
ENST00000442591.5:c.*28+1817G>A ENSP00000410031.1:n.*28+1817G>A
ENST00000454757.6:c.2073G>A ENSP00000395243.3:p.Glu691=
ENST00000455089.5:c.2073G>A ENSP00000415559.1:p.Glu691=
NM_005228.3:c.2208G>A , LRG_304t1:c.2208G>A NP_005219.2:p.Glu736=
NM_001346897.1:c.2073G>A NP_001333826.1:p.Glu691=
NM_001346898.1:c.2208G>A NP_001333827.1:p.Glu736=
NM_001346899.1:c.2073G>A NP_001333828.1:p.Glu691=
NM_001346900.1:c.2049G>A NP_001333829.1:p.Glu683=
NM_001346941.1:c.1407G>A NP_001333870.1:p.Glu469=
NM_005228.4:c.2208G>A NP_005219.2:p.Glu736=
NM_005228.5:c.2208G>A MANE Select NP_005219.2:p.Glu736=
NM_001346897.2:c.2073G>A NP_001333826.1:p.Glu691=
NM_001346898.2:c.2208G>A NP_001333827.1:p.Glu736=
NM_001346900.2:c.2049G>A NP_001333829.1:p.Glu683=
NM_001346941.2:c.1407G>A NP_001333870.1:p.Glu469=
NM_001346899.2:c.2073G>A NP_001333828.1:p.Glu691=