Canonical Allele Identifier: CA4266051
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1158177
ClinVar RCV Id: RCV001501516
dbSNP Id: rs778199483
gnomAD v2: 7-55249006-C-T
gnomAD v3: 7-55181313-C-T
gnomAD v4: 7-55181313-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181313C>T , CM000669.2:g.55181313C>T GRCh38
NC_000007.13:g.55249006C>T , CM000669.1:g.55249006C>T GRCh37
NC_000007.12:g.55216500C>T NCBI36
NG_007726.3:g.167282C>T , LRG_304:g.167282C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2145C>T (EGFR) ENSP00000413354.2:p.Ser715=
ENST00000700145.1:c.653C>T (EGFR)
ENST00000275493.7:c.2304C>T (EGFR) MANE Select ENSP00000275493.2:p.Ser768=
ENST00000275493.6:c.2304C>T (EGFR) ENSP00000275493.2:p.Ser768=
ENST00000442591.5:c.*28+8385C>T (EGFR) ENSP00000410031.1:n.*28+8385C>T
ENST00000454757.6:c.2169C>T (EGFR) ENSP00000395243.3:p.Ser723=
ENST00000455089.5:c.2169C>T (EGFR) ENSP00000415559.1:p.Ser723=
NM_005228.3:c.2304C>T , LRG_304t1:c.2304C>T (EGFR) NP_005219.2:p.Ser768=
NR_047551.1:n.1258G>A (EGFR-AS1)
NM_001346897.1:c.2169C>T (EGFR) NP_001333826.1:p.Ser723=
NM_001346898.1:c.2304C>T (EGFR) NP_001333827.1:p.Ser768=
NM_001346899.1:c.2169C>T (EGFR) NP_001333828.1:p.Ser723=
NM_001346900.1:c.2145C>T (EGFR) NP_001333829.1:p.Ser715=
NM_001346941.1:c.1503C>T (EGFR) NP_001333870.1:p.Ser501=
NM_005228.4:c.2304C>T (EGFR) NP_005219.2:p.Ser768=
NM_005228.5:c.2304C>T (EGFR) MANE Select NP_005219.2:p.Ser768=
NM_001346897.2:c.2169C>T (EGFR) NP_001333826.1:p.Ser723=
NM_001346898.2:c.2304C>T (EGFR) NP_001333827.1:p.Ser768=
NM_001346900.2:c.2145C>T (EGFR) NP_001333829.1:p.Ser715=
NM_001346941.2:c.1503C>T (EGFR) NP_001333870.1:p.Ser501=
NM_001346899.2:c.2169C>T (EGFR) NP_001333828.1:p.Ser723=