Canonical Allele Identifier: CA135788

Gene: EGFR

Linked Data

• ClinVar Variation Id: 45231
• ClinVar RCV Id: RCV000038387
• dbSNP Id: rs397517092
• COSMIC: COSM52934
• MyVariant Identifiers: chr7:g.55242449T>C (hg19) ; chr7:g.55174756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174756T>C , CM000669.2:g.55174756T>C	GRCh38
NC_000007.13:g.55242449T>C , CM000669.1:g.55242449T>C	GRCh37
NC_000007.12:g.55209943T>C	NCBI36
NG_007726.3:g.160725T>C , LRG_304:g.160725T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2060T>C	ENSP00000413354.2:p.Ile687Thr
ENST00000700145.1:c.568T>C
ENST00000275493.7:c.2219T>C MANE Select	ENSP00000275493.2:p.Ile740Thr
ENST00000275493.6:c.2219T>C	ENSP00000275493.2:p.Ile740Thr
ENST00000442591.5:c.*28+1828T>C	ENSP00000410031.1:n.*28+1828T>C
ENST00000454757.6:c.2084T>C	ENSP00000395243.3:p.Ile695Thr
ENST00000455089.5:c.2084T>C	ENSP00000415559.1:p.Ile695Thr
NM_005228.3:c.2219T>C , LRG_304t1:c.2219T>C	NP_005219.2:p.Ile740Thr
NM_001346897.1:c.2084T>C	NP_001333826.1:p.Ile695Thr
NM_001346898.1:c.2219T>C	NP_001333827.1:p.Ile740Thr
NM_001346899.1:c.2084T>C	NP_001333828.1:p.Ile695Thr
NM_001346900.1:c.2060T>C	NP_001333829.1:p.Ile687Thr
NM_001346941.1:c.1418T>C	NP_001333870.1:p.Ile473Thr
NM_005228.4:c.2219T>C	NP_005219.2:p.Ile740Thr
NM_005228.5:c.2219T>C MANE Select	NP_005219.2:p.Ile740Thr
NM_001346897.2:c.2084T>C	NP_001333826.1:p.Ile695Thr
NM_001346898.2:c.2219T>C	NP_001333827.1:p.Ile740Thr
NM_001346900.2:c.2060T>C	NP_001333829.1:p.Ile687Thr
NM_001346941.2:c.1418T>C	NP_001333870.1:p.Ile473Thr
NM_001346899.2:c.2084T>C	NP_001333828.1:p.Ile695Thr