Canonical Allele Identifier: CA454979307
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2091954
ClinVar RCV Id: RCV002991751
dbSNP Id: rs2128954605
gnomAD v4: 7-55174742-T-C
MyVariant Identifiers: chr7:g.55242435T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174742T>C , CM000669.2:g.55174742T>C GRCh38
NC_000007.13:g.55242435T>C , CM000669.1:g.55242435T>C GRCh37
NC_000007.12:g.55209929T>C NCBI36
NG_007726.3:g.160711T>C , LRG_304:g.160711T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2046T>C ENSP00000413354.2:p.Gly682=
ENST00000700145.1:c.554T>C
ENST00000275493.7:c.2205T>C MANE Select ENSP00000275493.2:p.Gly735=
ENST00000275493.6:c.2205T>C ENSP00000275493.2:p.Gly735=
ENST00000442591.5:c.*28+1814T>C ENSP00000410031.1:n.*28+1814T>C
ENST00000454757.6:c.2070T>C ENSP00000395243.3:p.Gly690=
ENST00000455089.5:c.2070T>C ENSP00000415559.1:p.Gly690=
NM_005228.3:c.2205T>C , LRG_304t1:c.2205T>C NP_005219.2:p.Gly735=
NM_001346897.1:c.2070T>C NP_001333826.1:p.Gly690=
NM_001346898.1:c.2205T>C NP_001333827.1:p.Gly735=
NM_001346899.1:c.2070T>C NP_001333828.1:p.Gly690=
NM_001346900.1:c.2046T>C NP_001333829.1:p.Gly682=
NM_001346941.1:c.1404T>C NP_001333870.1:p.Gly468=
NM_005228.4:c.2205T>C NP_005219.2:p.Gly735=
NM_005228.5:c.2205T>C MANE Select NP_005219.2:p.Gly735=
NM_001346897.2:c.2070T>C NP_001333826.1:p.Gly690=
NM_001346898.2:c.2205T>C NP_001333827.1:p.Gly735=
NM_001346900.2:c.2046T>C NP_001333829.1:p.Gly682=
NM_001346941.2:c.1404T>C NP_001333870.1:p.Gly468=
NM_001346899.2:c.2070T>C NP_001333828.1:p.Gly690=