Canonical Allele Identifier: CA367578813

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs2128958593
• gnomAD v4: 7-55181359-T-C
• COSMIC: COSM28513
• MyVariant Identifiers: chr7:g.55249052T>C (hg19) ; chr7:g.55181359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181359T>C , CM000669.2:g.55181359T>C	GRCh38
NC_000007.13:g.55249052T>C , CM000669.1:g.55249052T>C	GRCh37
NC_000007.12:g.55216546T>C	NCBI36
NG_007726.3:g.167328T>C , LRG_304:g.167328T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2191T>C (EGFR)	ENSP00000413354.2:p.Ser731Pro
ENST00000700145.1:c.699T>C (EGFR)
ENST00000275493.7:c.2350T>C (EGFR) MANE Select	ENSP00000275493.2:p.Ser784Pro
ENST00000275493.6:c.2350T>C (EGFR)	ENSP00000275493.2:p.Ser784Pro
ENST00000442591.5:c.*28+8431T>C (EGFR)	ENSP00000410031.1:n.*28+8431T>C
ENST00000454757.6:c.2215T>C (EGFR)	ENSP00000395243.3:p.Ser739Pro
ENST00000455089.5:c.2215T>C (EGFR)	ENSP00000415559.1:p.Ser739Pro
NM_005228.3:c.2350T>C , LRG_304t1:c.2350T>C (EGFR)	NP_005219.2:p.Ser784Pro
NR_047551.1:n.1212A>G (EGFR-AS1)
NM_001346897.1:c.2215T>C (EGFR)	NP_001333826.1:p.Ser739Pro
NM_001346898.1:c.2350T>C (EGFR)	NP_001333827.1:p.Ser784Pro
NM_001346899.1:c.2215T>C (EGFR)	NP_001333828.1:p.Ser739Pro
NM_001346900.1:c.2191T>C (EGFR)	NP_001333829.1:p.Ser731Pro
NM_001346941.1:c.1549T>C (EGFR)	NP_001333870.1:p.Ser517Pro
NM_005228.4:c.2350T>C (EGFR)	NP_005219.2:p.Ser784Pro
NM_005228.5:c.2350T>C (EGFR) MANE Select	NP_005219.2:p.Ser784Pro
NM_001346897.2:c.2215T>C (EGFR)	NP_001333826.1:p.Ser739Pro
NM_001346898.2:c.2350T>C (EGFR)	NP_001333827.1:p.Ser784Pro
NM_001346900.2:c.2191T>C (EGFR)	NP_001333829.1:p.Ser731Pro
NM_001346941.2:c.1549T>C (EGFR)	NP_001333870.1:p.Ser517Pro
NM_001346899.2:c.2215T>C (EGFR)	NP_001333828.1:p.Ser739Pro