Canonical Allele Identifier: CA367584104

Gene: EGFR

Linked Data

• dbSNP Id: rs587778250
• MyVariant Identifiers: chr7:g.55242454G>C (hg19) ; chr7:g.55174761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174761G>C , CM000669.2:g.55174761G>C	GRCh38
NC_000007.13:g.55242454G>C , CM000669.1:g.55242454G>C	GRCh37
NC_000007.12:g.55209948G>C	NCBI36
NG_007726.3:g.160730G>C , LRG_304:g.160730G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2065G>C	ENSP00000413354.2:p.Val689Leu
ENST00000700145.1:c.573G>C
ENST00000275493.7:c.2224G>C MANE Select	ENSP00000275493.2:p.Val742Leu
ENST00000275493.6:c.2224G>C	ENSP00000275493.2:p.Val742Leu
ENST00000442591.5:c.*28+1833G>C	ENSP00000410031.1:n.*28+1833G>C
ENST00000454757.6:c.2089G>C	ENSP00000395243.3:p.Val697Leu
ENST00000455089.5:c.2089G>C	ENSP00000415559.1:p.Val697Leu
NM_005228.3:c.2224G>C , LRG_304t1:c.2224G>C	NP_005219.2:p.Val742Leu
NM_001346897.1:c.2089G>C	NP_001333826.1:p.Val697Leu
NM_001346898.1:c.2224G>C	NP_001333827.1:p.Val742Leu
NM_001346899.1:c.2089G>C	NP_001333828.1:p.Val697Leu
NM_001346900.1:c.2065G>C	NP_001333829.1:p.Val689Leu
NM_001346941.1:c.1423G>C	NP_001333870.1:p.Val475Leu
NM_005228.4:c.2224G>C	NP_005219.2:p.Val742Leu
NM_005228.5:c.2224G>C MANE Select	NP_005219.2:p.Val742Leu
NM_001346897.2:c.2089G>C	NP_001333826.1:p.Val697Leu
NM_001346898.2:c.2224G>C	NP_001333827.1:p.Val742Leu
NM_001346900.2:c.2065G>C	NP_001333829.1:p.Val689Leu
NM_001346941.2:c.1423G>C	NP_001333870.1:p.Val475Leu
NM_001346899.2:c.2089G>C	NP_001333828.1:p.Val697Leu