Canonical Allele Identifier: CA2682854912
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954980
gnomAD v4: 7-55174855-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174855C>T , CM000669.2:g.55174855C>T GRCh38
NC_000007.13:g.55242548C>T , CM000669.1:g.55242548C>T GRCh37
NC_000007.12:g.55210042C>T NCBI36
NG_007726.3:g.160824C>T , LRG_304:g.160824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2124+35C>T ENSP00000413354.2:n.2124+35C>T
ENST00000700145.1:c.632+35C>T
ENST00000275493.7:c.2283+35C>T MANE Select ENSP00000275493.2:n.2283+35C>T
ENST00000275493.6:c.2283+35C>T ENSP00000275493.2:n.2283+35C>T
ENST00000442591.5:c.*28+1927C>T ENSP00000410031.1:n.*28+1927C>T
ENST00000454757.6:c.2148+35C>T ENSP00000395243.3:n.2148+35C>T
ENST00000455089.5:c.2148+35C>T ENSP00000415559.1:n.2148+35C>T
NM_005228.3:c.2283+35C>T , LRG_304t1:c.2283+35C>T NP_005219.2:n.2283+35C>T
NM_001346897.1:c.2148+35C>T NP_001333826.1:n.2148+35C>T
NM_001346898.1:c.2283+35C>T NP_001333827.1:n.2283+35C>T
NM_001346899.1:c.2148+35C>T NP_001333828.1:n.2148+35C>T
NM_001346900.1:c.2124+35C>T NP_001333829.1:n.2124+35C>T
NM_001346941.1:c.1482+35C>T NP_001333870.1:n.1482+35C>T
NM_005228.4:c.2283+35C>T NP_005219.2:n.2283+35C>T
NM_005228.5:c.2283+35C>T MANE Select NP_005219.2:n.2283+35C>T
NM_001346897.2:c.2148+35C>T NP_001333826.1:n.2148+35C>T
NM_001346898.2:c.2283+35C>T NP_001333827.1:n.2283+35C>T
NM_001346900.2:c.2124+35C>T NP_001333829.1:n.2124+35C>T
NM_001346941.2:c.1482+35C>T NP_001333870.1:n.1482+35C>T
NM_001346899.2:c.2148+35C>T NP_001333828.1:n.2148+35C>T