Canonical Allele Identifier: CA4266019

Gene: EGFR

Linked Data

• ClinVar Variation Id: 965885
• ClinVar RCV Id: RCV001240434
• dbSNP Id: rs759256622
• ExAC: 7:55242457 G / A
• gnomAD v2: 7-55242457-G-A
• gnomAD v3: 7-55174764-G-A
• gnomAD v4: 7-55174764-G-A
• COSMIC: COSM26509
• MyVariant Identifiers: chr7:g.55242457G>A (hg19) ; chr7:g.55174764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174764G>A , CM000669.2:g.55174764G>A	GRCh38
NC_000007.13:g.55242457G>A , CM000669.1:g.55242457G>A	GRCh37
NC_000007.12:g.55209951G>A	NCBI36
NG_007726.3:g.160733G>A , LRG_304:g.160733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2068G>A	ENSP00000413354.2:p.Ala690Thr
ENST00000700145.1:c.576G>A
ENST00000275493.7:c.2227G>A MANE Select	ENSP00000275493.2:p.Ala743Thr
ENST00000275493.6:c.2227G>A	ENSP00000275493.2:p.Ala743Thr
ENST00000442591.5:c.*28+1836G>A	ENSP00000410031.1:n.*28+1836G>A
ENST00000454757.6:c.2092G>A	ENSP00000395243.3:p.Ala698Thr
ENST00000455089.5:c.2092G>A	ENSP00000415559.1:p.Ala698Thr
NM_005228.3:c.2227G>A , LRG_304t1:c.2227G>A	NP_005219.2:p.Ala743Thr
NM_001346897.1:c.2092G>A	NP_001333826.1:p.Ala698Thr
NM_001346898.1:c.2227G>A	NP_001333827.1:p.Ala743Thr
NM_001346899.1:c.2092G>A	NP_001333828.1:p.Ala698Thr
NM_001346900.1:c.2068G>A	NP_001333829.1:p.Ala690Thr
NM_001346941.1:c.1426G>A	NP_001333870.1:p.Ala476Thr
NM_005228.4:c.2227G>A	NP_005219.2:p.Ala743Thr
NM_005228.5:c.2227G>A MANE Select	NP_005219.2:p.Ala743Thr
NM_001346897.2:c.2092G>A	NP_001333826.1:p.Ala698Thr
NM_001346898.2:c.2227G>A	NP_001333827.1:p.Ala743Thr
NM_001346900.2:c.2068G>A	NP_001333829.1:p.Ala690Thr
NM_001346941.2:c.1426G>A	NP_001333870.1:p.Ala476Thr
NM_001346899.2:c.2092G>A	NP_001333828.1:p.Ala698Thr