Canonical Allele Identifier: CA367578988

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 2765074
• ClinVar RCV Id: RCV003538106
• MyVariant Identifiers: chr7:g.55249133T>G (hg19) ; chr7:g.55181440T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181440T>G , CM000669.2:g.55181440T>G	GRCh38
NC_000007.13:g.55249133T>G , CM000669.1:g.55249133T>G	GRCh37
NC_000007.12:g.55216627T>G	NCBI36
NG_007726.3:g.167409T>G , LRG_304:g.167409T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2272T>G (EGFR)	ENSP00000413354.2:p.Ser758Ala
ENST00000700145.1:c.780T>G (EGFR)
ENST00000275493.7:c.2431T>G (EGFR) MANE Select	ENSP00000275493.2:p.Ser811Ala
ENST00000275493.6:c.2431T>G (EGFR)	ENSP00000275493.2:p.Ser811Ala
ENST00000442591.5:c.*28+8512T>G (EGFR)	ENSP00000410031.1:n.*28+8512T>G
ENST00000454757.6:c.2296T>G (EGFR)	ENSP00000395243.3:p.Ser766Ala
ENST00000455089.5:c.2296T>G (EGFR)	ENSP00000415559.1:p.Ser766Ala
NM_005228.3:c.2431T>G , LRG_304t1:c.2431T>G (EGFR)	NP_005219.2:p.Ser811Ala
NR_047551.1:n.1131A>C (EGFR-AS1)
NM_001346897.1:c.2296T>G (EGFR)	NP_001333826.1:p.Ser766Ala
NM_001346898.1:c.2431T>G (EGFR)	NP_001333827.1:p.Ser811Ala
NM_001346899.1:c.2296T>G (EGFR)	NP_001333828.1:p.Ser766Ala
NM_001346900.1:c.2272T>G (EGFR)	NP_001333829.1:p.Ser758Ala
NM_001346941.1:c.1630T>G (EGFR)	NP_001333870.1:p.Ser544Ala
NM_005228.4:c.2431T>G (EGFR)	NP_005219.2:p.Ser811Ala
NM_005228.5:c.2431T>G (EGFR) MANE Select	NP_005219.2:p.Ser811Ala
NM_001346897.2:c.2296T>G (EGFR)	NP_001333826.1:p.Ser766Ala
NM_001346898.2:c.2431T>G (EGFR)	NP_001333827.1:p.Ser811Ala
NM_001346900.2:c.2272T>G (EGFR)	NP_001333829.1:p.Ser758Ala
NM_001346941.2:c.1630T>G (EGFR)	NP_001333870.1:p.Ser544Ala
NM_001346899.2:c.2296T>G (EGFR)	NP_001333828.1:p.Ser766Ala