Canonical Allele Identifier: CA454968520
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128971512
MyVariant Identifiers: chr7:g.55268907T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201214T>C , CM000669.2:g.55201214T>C GRCh38
NC_000007.13:g.55268907T>C , CM000669.1:g.55268907T>C GRCh37
NC_000007.12:g.55236401T>C NCBI36
NG_007726.3:g.187183T>C , LRG_304:g.187183T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2814T>C ENSP00000413354.2:p.Ser938=
ENST00000700145.1:c.900-4133T>C
ENST00000700146.1:n.717T>C
ENST00000700147.1:n.642T>C
ENST00000275493.7:c.2973T>C MANE Select ENSP00000275493.2:p.Ser991=
ENST00000275493.6:c.2973T>C ENSP00000275493.2:p.Ser991=
ENST00000442591.5:c.*28+28286T>C ENSP00000410031.1:n.*28+28286T>C
ENST00000454757.6:c.2838T>C ENSP00000395243.3:p.Ser946=
ENST00000455089.5:c.2838T>C ENSP00000415559.1:p.Ser946=
NM_005228.3:c.2973T>C , LRG_304t1:c.2973T>C NP_005219.2:p.Ser991=
NM_001346897.1:c.2838T>C NP_001333826.1:p.Ser946=
NM_001346898.1:c.2973T>C NP_001333827.1:p.Ser991=
NM_001346899.1:c.2838T>C NP_001333828.1:p.Ser946=
NM_001346900.1:c.2814T>C NP_001333829.1:p.Ser938=
NM_001346941.1:c.2172T>C NP_001333870.1:p.Ser724=
NM_005228.4:c.2973T>C NP_005219.2:p.Ser991=
NM_005228.5:c.2973T>C MANE Select NP_005219.2:p.Ser991=
NM_001346897.2:c.2838T>C NP_001333826.1:p.Ser946=
NM_001346898.2:c.2973T>C NP_001333827.1:p.Ser991=
NM_001346900.2:c.2814T>C NP_001333829.1:p.Ser938=
NM_001346941.2:c.2172T>C NP_001333870.1:p.Ser724=
NM_001346899.2:c.2838T>C NP_001333828.1:p.Ser946=