Canonical Allele Identifier: CA454968509
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128971489
MyVariant Identifiers: chr7:g.55268898T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201205T>C , CM000669.2:g.55201205T>C GRCh38
NC_000007.13:g.55268898T>C , CM000669.1:g.55268898T>C GRCh37
NC_000007.12:g.55236392T>C NCBI36
NG_007726.3:g.187174T>C , LRG_304:g.187174T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2805T>C ENSP00000413354.2:p.His935=
ENST00000700145.1:c.900-4142T>C
ENST00000700146.1:n.708T>C
ENST00000700147.1:n.633T>C
ENST00000275493.7:c.2964T>C MANE Select ENSP00000275493.2:p.His988=
ENST00000275493.6:c.2964T>C ENSP00000275493.2:p.His988=
ENST00000442591.5:c.*28+28277T>C ENSP00000410031.1:n.*28+28277T>C
ENST00000454757.6:c.2829T>C ENSP00000395243.3:p.His943=
ENST00000455089.5:c.2829T>C ENSP00000415559.1:p.His943=
NM_005228.3:c.2964T>C , LRG_304t1:c.2964T>C NP_005219.2:p.His988=
NM_001346897.1:c.2829T>C NP_001333826.1:p.His943=
NM_001346898.1:c.2964T>C NP_001333827.1:p.His988=
NM_001346899.1:c.2829T>C NP_001333828.1:p.His943=
NM_001346900.1:c.2805T>C NP_001333829.1:p.His935=
NM_001346941.1:c.2163T>C NP_001333870.1:p.His721=
NM_005228.4:c.2964T>C NP_005219.2:p.His988=
NM_005228.5:c.2964T>C MANE Select NP_005219.2:p.His988=
NM_001346897.2:c.2829T>C NP_001333826.1:p.His943=
NM_001346898.2:c.2964T>C NP_001333827.1:p.His988=
NM_001346900.2:c.2805T>C NP_001333829.1:p.His935=
NM_001346941.2:c.2163T>C NP_001333870.1:p.His721=
NM_001346899.2:c.2829T>C NP_001333828.1:p.His943=