Canonical Allele Identifier: CA135791

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45232
• ClinVar RCV Id: RCV000038388 ; RCV001422717
• dbSNP Id: rs397517093
• MyVariant Identifiers: chr7:g.55242462C>T (hg19) ; chr7:g.55174769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174769C>T , CM000669.2:g.55174769C>T	GRCh38
NC_000007.13:g.55242462C>T , CM000669.1:g.55242462C>T	GRCh37
NC_000007.12:g.55209956C>T	NCBI36
NG_007726.3:g.160738C>T , LRG_304:g.160738C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2073C>T	ENSP00000413354.2:p.Ile691=
ENST00000700145.1:c.581C>T
ENST00000275493.7:c.2232C>T MANE Select	ENSP00000275493.2:p.Ile744=
ENST00000275493.6:c.2232C>T	ENSP00000275493.2:p.Ile744=
ENST00000442591.5:c.*28+1841C>T	ENSP00000410031.1:n.*28+1841C>T
ENST00000454757.6:c.2097C>T	ENSP00000395243.3:p.Ile699=
ENST00000455089.5:c.2097C>T	ENSP00000415559.1:p.Ile699=
NM_005228.3:c.2232C>T , LRG_304t1:c.2232C>T	NP_005219.2:p.Ile744=
NM_001346897.1:c.2097C>T	NP_001333826.1:p.Ile699=
NM_001346898.1:c.2232C>T	NP_001333827.1:p.Ile744=
NM_001346899.1:c.2097C>T	NP_001333828.1:p.Ile699=
NM_001346900.1:c.2073C>T	NP_001333829.1:p.Ile691=
NM_001346941.1:c.1431C>T	NP_001333870.1:p.Ile477=
NM_005228.4:c.2232C>T	NP_005219.2:p.Ile744=
NM_005228.5:c.2232C>T MANE Select	NP_005219.2:p.Ile744=
NM_001346897.2:c.2097C>T	NP_001333826.1:p.Ile699=
NM_001346898.2:c.2232C>T	NP_001333827.1:p.Ile744=
NM_001346900.2:c.2073C>T	NP_001333829.1:p.Ile691=
NM_001346941.2:c.1431C>T	NP_001333870.1:p.Ile477=
NM_001346899.2:c.2097C>T	NP_001333828.1:p.Ile699=