Canonical Allele Identifier: CA367580208
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1046086
ClinVar RCV Id: RCV001350595
dbSNP Id: rs1787407443
gnomAD v4: 7-55191791-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191791C>T , CM000669.2:g.55191791C>T GRCh38
NC_000007.13:g.55259484C>T , CM000669.1:g.55259484C>T GRCh37
NC_000007.12:g.55226978C>T NCBI36
NG_007726.3:g.177760C>T , LRG_304:g.177760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2383C>T ENSP00000413354.2:p.Pro795Ser
ENST00000700145.1:c.891C>T
ENST00000275493.7:c.2542C>T MANE Select ENSP00000275493.2:p.Pro848Ser
ENST00000275493.6:c.2542C>T ENSP00000275493.2:p.Pro848Ser
ENST00000442591.5:c.*28+18863C>T ENSP00000410031.1:n.*28+18863C>T
ENST00000454757.6:c.2407C>T ENSP00000395243.3:p.Pro803Ser
ENST00000455089.5:c.2407C>T ENSP00000415559.1:p.Pro803Ser
NM_005228.3:c.2542C>T , LRG_304t1:c.2542C>T NP_005219.2:p.Pro848Ser
NM_001346897.1:c.2407C>T NP_001333826.1:p.Pro803Ser
NM_001346898.1:c.2542C>T NP_001333827.1:p.Pro848Ser
NM_001346899.1:c.2407C>T NP_001333828.1:p.Pro803Ser
NM_001346900.1:c.2383C>T NP_001333829.1:p.Pro795Ser
NM_001346941.1:c.1741C>T NP_001333870.1:p.Pro581Ser
NM_005228.4:c.2542C>T NP_005219.2:p.Pro848Ser
NM_005228.5:c.2542C>T MANE Select NP_005219.2:p.Pro848Ser
NM_001346897.2:c.2407C>T NP_001333826.1:p.Pro803Ser
NM_001346898.2:c.2542C>T NP_001333827.1:p.Pro848Ser
NM_001346900.2:c.2383C>T NP_001333829.1:p.Pro795Ser
NM_001346941.2:c.1741C>T NP_001333870.1:p.Pro581Ser
NM_001346899.2:c.2407C>T NP_001333828.1:p.Pro803Ser