Canonical Allele Identifier: CA367582415

Gene: EGFR

Linked Data

• gnomAD v4: 7-55201225-C-T
• MyVariant Identifiers: chr7:g.55268918C>T (hg19) ; chr7:g.55201225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201225C>T , CM000669.2:g.55201225C>T	GRCh38
NC_000007.13:g.55268918C>T , CM000669.1:g.55268918C>T	GRCh37
NC_000007.12:g.55236412C>T	NCBI36
NG_007726.3:g.187194C>T , LRG_304:g.187194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2825C>T	ENSP00000413354.2:p.Ser942Phe
ENST00000700145.1:c.900-4122C>T
ENST00000700146.1:n.728C>T
ENST00000700147.1:n.653C>T
ENST00000275493.7:c.2984C>T MANE Select	ENSP00000275493.2:p.Ser995Phe
ENST00000275493.6:c.2984C>T	ENSP00000275493.2:p.Ser995Phe
ENST00000442591.5:c.*28+28297C>T	ENSP00000410031.1:n.*28+28297C>T
ENST00000454757.6:c.2849C>T	ENSP00000395243.3:p.Ser950Phe
ENST00000455089.5:c.2849C>T	ENSP00000415559.1:p.Ser950Phe
NM_005228.3:c.2984C>T , LRG_304t1:c.2984C>T	NP_005219.2:p.Ser995Phe
NM_001346897.1:c.2849C>T	NP_001333826.1:p.Ser950Phe
NM_001346898.1:c.2984C>T	NP_001333827.1:p.Ser995Phe
NM_001346899.1:c.2849C>T	NP_001333828.1:p.Ser950Phe
NM_001346900.1:c.2825C>T	NP_001333829.1:p.Ser942Phe
NM_001346941.1:c.2183C>T	NP_001333870.1:p.Ser728Phe
NM_005228.4:c.2984C>T	NP_005219.2:p.Ser995Phe
NM_005228.5:c.2984C>T MANE Select	NP_005219.2:p.Ser995Phe
NM_001346897.2:c.2849C>T	NP_001333826.1:p.Ser950Phe
NM_001346898.2:c.2984C>T	NP_001333827.1:p.Ser995Phe
NM_001346900.2:c.2825C>T	NP_001333829.1:p.Ser942Phe
NM_001346941.2:c.2183C>T	NP_001333870.1:p.Ser728Phe
NM_001346899.2:c.2849C>T	NP_001333828.1:p.Ser950Phe