Canonical Allele Identifier: CA367580306

Gene: EGFR

Linked Data

• gnomAD v4: 7-55191840-C-G
• MyVariant Identifiers: chr7:g.55259533C>G (hg19) ; chr7:g.55191840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191840C>G , CM000669.2:g.55191840C>G	GRCh38
NC_000007.13:g.55259533C>G , CM000669.1:g.55259533C>G	GRCh37
NC_000007.12:g.55227027C>G	NCBI36
NG_007726.3:g.177809C>G , LRG_304:g.177809C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2432C>G	ENSP00000413354.2:p.Ala811Gly
ENST00000700145.1:c.899+41C>G
ENST00000275493.7:c.2591C>G MANE Select	ENSP00000275493.2:p.Ala864Gly
ENST00000275493.6:c.2591C>G	ENSP00000275493.2:p.Ala864Gly
ENST00000442591.5:c.*28+18912C>G	ENSP00000410031.1:n.*28+18912C>G
ENST00000454757.6:c.2456C>G	ENSP00000395243.3:p.Ala819Gly
ENST00000455089.5:c.2456C>G	ENSP00000415559.1:p.Ala819Gly
NM_005228.3:c.2591C>G , LRG_304t1:c.2591C>G	NP_005219.2:p.Ala864Gly
NM_001346897.1:c.2456C>G	NP_001333826.1:p.Ala819Gly
NM_001346898.1:c.2591C>G	NP_001333827.1:p.Ala864Gly
NM_001346899.1:c.2456C>G	NP_001333828.1:p.Ala819Gly
NM_001346900.1:c.2432C>G	NP_001333829.1:p.Ala811Gly
NM_001346941.1:c.1790C>G	NP_001333870.1:p.Ala597Gly
NM_005228.4:c.2591C>G	NP_005219.2:p.Ala864Gly
NM_005228.5:c.2591C>G MANE Select	NP_005219.2:p.Ala864Gly
NM_001346897.2:c.2456C>G	NP_001333826.1:p.Ala819Gly
NM_001346898.2:c.2591C>G	NP_001333827.1:p.Ala864Gly
NM_001346900.2:c.2432C>G	NP_001333829.1:p.Ala811Gly
NM_001346941.2:c.1790C>G	NP_001333870.1:p.Ala597Gly
NM_001346899.2:c.2456C>G	NP_001333828.1:p.Ala819Gly