Canonical Allele Identifier: CA454965619
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128964513
MyVariant Identifiers: chr7:g.55259472C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191779C>T , CM000669.2:g.55191779C>T GRCh38
NC_000007.13:g.55259472C>T , CM000669.1:g.55259472C>T GRCh37
NC_000007.12:g.55226966C>T NCBI36
NG_007726.3:g.177748C>T , LRG_304:g.177748C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2371C>T ENSP00000413354.2:p.Leu791=
ENST00000700145.1:c.879C>T
ENST00000275493.7:c.2530C>T MANE Select ENSP00000275493.2:p.Leu844=
ENST00000275493.6:c.2530C>T ENSP00000275493.2:p.Leu844=
ENST00000442591.5:c.*28+18851C>T ENSP00000410031.1:n.*28+18851C>T
ENST00000454757.6:c.2395C>T ENSP00000395243.3:p.Leu799=
ENST00000455089.5:c.2395C>T ENSP00000415559.1:p.Leu799=
NM_005228.3:c.2530C>T , LRG_304t1:c.2530C>T NP_005219.2:p.Leu844=
NM_001346897.1:c.2395C>T NP_001333826.1:p.Leu799=
NM_001346898.1:c.2530C>T NP_001333827.1:p.Leu844=
NM_001346899.1:c.2395C>T NP_001333828.1:p.Leu799=
NM_001346900.1:c.2371C>T NP_001333829.1:p.Leu791=
NM_001346941.1:c.1729C>T NP_001333870.1:p.Leu577=
NM_005228.4:c.2530C>T NP_005219.2:p.Leu844=
NM_005228.5:c.2530C>T MANE Select NP_005219.2:p.Leu844=
NM_001346897.2:c.2395C>T NP_001333826.1:p.Leu799=
NM_001346898.2:c.2530C>T NP_001333827.1:p.Leu844=
NM_001346900.2:c.2371C>T NP_001333829.1:p.Leu791=
NM_001346941.2:c.1729C>T NP_001333870.1:p.Leu577=
NM_001346899.2:c.2395C>T NP_001333828.1:p.Leu799=