Canonical Allele Identifier: CA367580288

Gene: EGFR

Linked Data

• dbSNP Id: rs2128964633
• COSMIC: COSM26717
• MyVariant Identifiers: chr7:g.55259521A>T (hg19) ; chr7:g.55191828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191828A>T , CM000669.2:g.55191828A>T	GRCh38
NC_000007.13:g.55259521A>T , CM000669.1:g.55259521A>T	GRCh37
NC_000007.12:g.55227015A>T	NCBI36
NG_007726.3:g.177797A>T , LRG_304:g.177797A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2420A>T	ENSP00000413354.2:p.Lys807Ile
ENST00000700145.1:c.899+29A>T
ENST00000275493.7:c.2579A>T MANE Select	ENSP00000275493.2:p.Lys860Ile
ENST00000275493.6:c.2579A>T	ENSP00000275493.2:p.Lys860Ile
ENST00000442591.5:c.*28+18900A>T	ENSP00000410031.1:n.*28+18900A>T
ENST00000454757.6:c.2444A>T	ENSP00000395243.3:p.Lys815Ile
ENST00000455089.5:c.2444A>T	ENSP00000415559.1:p.Lys815Ile
NM_005228.3:c.2579A>T , LRG_304t1:c.2579A>T	NP_005219.2:p.Lys860Ile
NM_001346897.1:c.2444A>T	NP_001333826.1:p.Lys815Ile
NM_001346898.1:c.2579A>T	NP_001333827.1:p.Lys860Ile
NM_001346899.1:c.2444A>T	NP_001333828.1:p.Lys815Ile
NM_001346900.1:c.2420A>T	NP_001333829.1:p.Lys807Ile
NM_001346941.1:c.1778A>T	NP_001333870.1:p.Lys593Ile
NM_005228.4:c.2579A>T	NP_005219.2:p.Lys860Ile
NM_005228.5:c.2579A>T MANE Select	NP_005219.2:p.Lys860Ile
NM_001346897.2:c.2444A>T	NP_001333826.1:p.Lys815Ile
NM_001346898.2:c.2579A>T	NP_001333827.1:p.Lys860Ile
NM_001346900.2:c.2420A>T	NP_001333829.1:p.Lys807Ile
NM_001346941.2:c.1778A>T	NP_001333870.1:p.Lys593Ile
NM_001346899.2:c.2444A>T	NP_001333828.1:p.Lys815Ile