Canonical Allele Identifier: CA367578606

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 1896958
• ClinVar RCV Id: RCV002576136
• dbSNP Id: rs778199483
• MyVariant Identifiers: chr7:g.55249006C>A (hg19) ; chr7:g.55181313C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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