Canonical Allele Identifier: CA367580302
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 938049
ClinVar RCV Id: RCV001207197
dbSNP Id: rs1171287261
gnomAD v4: 7-55191839-G-A
COSMIC: COSM13197
MyVariant Identifiers: chr7:g.55259532G>A (hg19) chr7:g.55191839G>A (hg38)
CIViC: CA367580302
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191839G>A , CM000669.2:g.55191839G>A GRCh38
NC_000007.13:g.55259532G>A , CM000669.1:g.55259532G>A GRCh37
NC_000007.12:g.55227026G>A NCBI36
NG_007726.3:g.177808G>A , LRG_304:g.177808G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2431G>A ENSP00000413354.2:p.Ala811Thr
ENST00000700145.1:c.899+40G>A
ENST00000275493.7:c.2590G>A MANE Select ENSP00000275493.2:p.Ala864Thr
ENST00000275493.6:c.2590G>A ENSP00000275493.2:p.Ala864Thr
ENST00000442591.5:c.*28+18911G>A ENSP00000410031.1:n.*28+18911G>A
ENST00000454757.6:c.2455G>A ENSP00000395243.3:p.Ala819Thr
ENST00000455089.5:c.2455G>A ENSP00000415559.1:p.Ala819Thr
NM_005228.3:c.2590G>A , LRG_304t1:c.2590G>A NP_005219.2:p.Ala864Thr
NM_001346897.1:c.2455G>A NP_001333826.1:p.Ala819Thr
NM_001346898.1:c.2590G>A NP_001333827.1:p.Ala864Thr
NM_001346899.1:c.2455G>A NP_001333828.1:p.Ala819Thr
NM_001346900.1:c.2431G>A NP_001333829.1:p.Ala811Thr
NM_001346941.1:c.1789G>A NP_001333870.1:p.Ala597Thr
NM_005228.4:c.2590G>A NP_005219.2:p.Ala864Thr
NM_005228.5:c.2590G>A MANE Select NP_005219.2:p.Ala864Thr
NM_001346897.2:c.2455G>A NP_001333826.1:p.Ala819Thr
NM_001346898.2:c.2590G>A NP_001333827.1:p.Ala864Thr
NM_001346900.2:c.2431G>A NP_001333829.1:p.Ala811Thr
NM_001346941.2:c.1789G>A NP_001333870.1:p.Ala597Thr
NM_001346899.2:c.2455G>A NP_001333828.1:p.Ala819Thr
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