Canonical Allele Identifier: CA367578605

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs778199483
• gnomAD v2: 7-55249006-C-G
• MyVariant Identifiers: chr7:g.55249006C>G (hg19) ; chr7:g.55181313C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181313C>G , CM000669.2:g.55181313C>G	GRCh38
NC_000007.13:g.55249006C>G , CM000669.1:g.55249006C>G	GRCh37
NC_000007.12:g.55216500C>G	NCBI36
NG_007726.3:g.167282C>G , LRG_304:g.167282C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2145C>G (EGFR)	ENSP00000413354.2:p.Ser715Arg
ENST00000700145.1:c.653C>G (EGFR)
ENST00000275493.7:c.2304C>G (EGFR) MANE Select	ENSP00000275493.2:p.Ser768Arg
ENST00000275493.6:c.2304C>G (EGFR)	ENSP00000275493.2:p.Ser768Arg
ENST00000442591.5:c.*28+8385C>G (EGFR)	ENSP00000410031.1:n.*28+8385C>G
ENST00000454757.6:c.2169C>G (EGFR)	ENSP00000395243.3:p.Ser723Arg
ENST00000455089.5:c.2169C>G (EGFR)	ENSP00000415559.1:p.Ser723Arg
NM_005228.3:c.2304C>G , LRG_304t1:c.2304C>G (EGFR)	NP_005219.2:p.Ser768Arg
NR_047551.1:n.1258G>C (EGFR-AS1)
NM_001346897.1:c.2169C>G (EGFR)	NP_001333826.1:p.Ser723Arg
NM_001346898.1:c.2304C>G (EGFR)	NP_001333827.1:p.Ser768Arg
NM_001346899.1:c.2169C>G (EGFR)	NP_001333828.1:p.Ser723Arg
NM_001346900.1:c.2145C>G (EGFR)	NP_001333829.1:p.Ser715Arg
NM_001346941.1:c.1503C>G (EGFR)	NP_001333870.1:p.Ser501Arg
NM_005228.4:c.2304C>G (EGFR)	NP_005219.2:p.Ser768Arg
NM_005228.5:c.2304C>G (EGFR) MANE Select	NP_005219.2:p.Ser768Arg
NM_001346897.2:c.2169C>G (EGFR)	NP_001333826.1:p.Ser723Arg
NM_001346898.2:c.2304C>G (EGFR)	NP_001333827.1:p.Ser768Arg
NM_001346900.2:c.2145C>G (EGFR)	NP_001333829.1:p.Ser715Arg
NM_001346941.2:c.1503C>G (EGFR)	NP_001333870.1:p.Ser501Arg
NM_001346899.2:c.2169C>G (EGFR)	NP_001333828.1:p.Ser723Arg