Canonical Allele Identifier: CA367578837
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2128958627

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181371C>A , CM000669.2:g.55181371C>A GRCh38
NC_000007.13:g.55249064C>A , CM000669.1:g.55249064C>A GRCh37
NC_000007.12:g.55216558C>A NCBI36
NG_007726.3:g.167340C>A , LRG_304:g.167340C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2203C>A (EGFR) ENSP00000413354.2:p.Leu735Ile
ENST00000700145.1:c.711C>A (EGFR)
ENST00000275493.7:c.2362C>A (EGFR) MANE Select ENSP00000275493.2:p.Leu788Ile
ENST00000275493.6:c.2362C>A (EGFR) ENSP00000275493.2:p.Leu788Ile
ENST00000442591.5:c.*28+8443C>A (EGFR) ENSP00000410031.1:n.*28+8443C>A
ENST00000454757.6:c.2227C>A (EGFR) ENSP00000395243.3:p.Leu743Ile
ENST00000455089.5:c.2227C>A (EGFR) ENSP00000415559.1:p.Leu743Ile
NM_005228.3:c.2362C>A , LRG_304t1:c.2362C>A (EGFR) NP_005219.2:p.Leu788Ile
NR_047551.1:n.1200G>T (EGFR-AS1)
NM_001346897.1:c.2227C>A (EGFR) NP_001333826.1:p.Leu743Ile
NM_001346898.1:c.2362C>A (EGFR) NP_001333827.1:p.Leu788Ile
NM_001346899.1:c.2227C>A (EGFR) NP_001333828.1:p.Leu743Ile
NM_001346900.1:c.2203C>A (EGFR) NP_001333829.1:p.Leu735Ile
NM_001346941.1:c.1561C>A (EGFR) NP_001333870.1:p.Leu521Ile
NM_005228.4:c.2362C>A (EGFR) NP_005219.2:p.Leu788Ile
NM_005228.5:c.2362C>A (EGFR) MANE Select NP_005219.2:p.Leu788Ile
NM_001346897.2:c.2227C>A (EGFR) NP_001333826.1:p.Leu743Ile
NM_001346898.2:c.2362C>A (EGFR) NP_001333827.1:p.Leu788Ile
NM_001346900.2:c.2203C>A (EGFR) NP_001333829.1:p.Leu735Ile
NM_001346941.2:c.1561C>A (EGFR) NP_001333870.1:p.Leu521Ile
NM_001346899.2:c.2227C>A (EGFR) NP_001333828.1:p.Leu743Ile