Canonical Allele Identifier: CA454968547

Gene: EGFR

Linked Data

• dbSNP Id: rs2128971579
• MyVariant Identifiers: chr7:g.55268935C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201242C>T , CM000669.2:g.55201242C>T	GRCh38
NC_000007.13:g.55268935C>T , CM000669.1:g.55268935C>T	GRCh37
NC_000007.12:g.55236429C>T	NCBI36
NG_007726.3:g.187211C>T , LRG_304:g.187211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2842C>T	ENSP00000413354.2:p.Leu948=
ENST00000700145.1:c.900-4105C>T
ENST00000700146.1:n.745C>T
ENST00000700147.1:n.670C>T
ENST00000275493.7:c.3001C>T MANE Select	ENSP00000275493.2:p.Leu1001=
ENST00000275493.6:c.3001C>T	ENSP00000275493.2:p.Leu1001=
ENST00000442591.5:c.*28+28314C>T	ENSP00000410031.1:n.*28+28314C>T
ENST00000454757.6:c.2866C>T	ENSP00000395243.3:p.Leu956=
ENST00000455089.5:c.2866C>T	ENSP00000415559.1:p.Leu956=
NM_005228.3:c.3001C>T , LRG_304t1:c.3001C>T	NP_005219.2:p.Leu1001=
NM_001346897.1:c.2866C>T	NP_001333826.1:p.Leu956=
NM_001346898.1:c.3001C>T	NP_001333827.1:p.Leu1001=
NM_001346899.1:c.2866C>T	NP_001333828.1:p.Leu956=
NM_001346900.1:c.2842C>T	NP_001333829.1:p.Leu948=
NM_001346941.1:c.2200C>T	NP_001333870.1:p.Leu734=
NM_005228.4:c.3001C>T	NP_005219.2:p.Leu1001=
NM_005228.5:c.3001C>T MANE Select	NP_005219.2:p.Leu1001=
NM_001346897.2:c.2866C>T	NP_001333826.1:p.Leu956=
NM_001346898.2:c.3001C>T	NP_001333827.1:p.Leu1001=
NM_001346900.2:c.2842C>T	NP_001333829.1:p.Leu948=
NM_001346941.2:c.2200C>T	NP_001333870.1:p.Leu734=
NM_001346899.2:c.2866C>T	NP_001333828.1:p.Leu956=