Canonical Allele Identifier: CA367583985

Gene: EGFR

Linked Data

• dbSNP Id: rs1786514738
• COSMIC: COSM53194
• MyVariant Identifiers: chr7:g.55242427C>T (hg19) ; chr7:g.55174734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174734C>T , CM000669.2:g.55174734C>T	GRCh38
NC_000007.13:g.55242427C>T , CM000669.1:g.55242427C>T	GRCh37
NC_000007.12:g.55209921C>T	NCBI36
NG_007726.3:g.160703C>T , LRG_304:g.160703C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2038C>T	ENSP00000413354.2:p.Pro680Ser
ENST00000700145.1:c.546C>T
ENST00000275493.7:c.2197C>T MANE Select	ENSP00000275493.2:p.Pro733Ser
ENST00000275493.6:c.2197C>T	ENSP00000275493.2:p.Pro733Ser
ENST00000442591.5:c.*28+1806C>T	ENSP00000410031.1:n.*28+1806C>T
ENST00000454757.6:c.2062C>T	ENSP00000395243.3:p.Pro688Ser
ENST00000455089.5:c.2062C>T	ENSP00000415559.1:p.Pro688Ser
NM_005228.3:c.2197C>T , LRG_304t1:c.2197C>T	NP_005219.2:p.Pro733Ser
NM_001346897.1:c.2062C>T	NP_001333826.1:p.Pro688Ser
NM_001346898.1:c.2197C>T	NP_001333827.1:p.Pro733Ser
NM_001346899.1:c.2062C>T	NP_001333828.1:p.Pro688Ser
NM_001346900.1:c.2038C>T	NP_001333829.1:p.Pro680Ser
NM_001346941.1:c.1396C>T	NP_001333870.1:p.Pro466Ser
NM_005228.4:c.2197C>T	NP_005219.2:p.Pro733Ser
NM_005228.5:c.2197C>T MANE Select	NP_005219.2:p.Pro733Ser
NM_001346897.2:c.2062C>T	NP_001333826.1:p.Pro688Ser
NM_001346898.2:c.2197C>T	NP_001333827.1:p.Pro733Ser
NM_001346900.2:c.2038C>T	NP_001333829.1:p.Pro680Ser
NM_001346941.2:c.1396C>T	NP_001333870.1:p.Pro466Ser
NM_001346899.2:c.2062C>T	NP_001333828.1:p.Pro688Ser