Canonical Allele Identifier: CA455165243
Gene: EGFR HGNC NCBI
EGFR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2128958767
MyVariant Identifiers: chr7:g.55249120A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55181427A>G , CM000669.2:g.55181427A>G GRCh38
NC_000007.13:g.55249120A>G , CM000669.1:g.55249120A>G GRCh37
NC_000007.12:g.55216614A>G NCBI36
NG_007726.3:g.167396A>G , LRG_304:g.167396A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2259A>G (EGFR) ENSP00000413354.2:p.Lys753=
ENST00000700145.1:c.767A>G (EGFR)
ENST00000275493.7:c.2418A>G (EGFR) MANE Select ENSP00000275493.2:p.Lys806=
ENST00000275493.6:c.2418A>G (EGFR) ENSP00000275493.2:p.Lys806=
ENST00000442591.5:c.*28+8499A>G (EGFR) ENSP00000410031.1:n.*28+8499A>G
ENST00000454757.6:c.2283A>G (EGFR) ENSP00000395243.3:p.Lys761=
ENST00000455089.5:c.2283A>G (EGFR) ENSP00000415559.1:p.Lys761=
NM_005228.3:c.2418A>G , LRG_304t1:c.2418A>G (EGFR) NP_005219.2:p.Lys806=
NR_047551.1:n.1144T>C (EGFR-AS1)
NM_001346897.1:c.2283A>G (EGFR) NP_001333826.1:p.Lys761=
NM_001346898.1:c.2418A>G (EGFR) NP_001333827.1:p.Lys806=
NM_001346899.1:c.2283A>G (EGFR) NP_001333828.1:p.Lys761=
NM_001346900.1:c.2259A>G (EGFR) NP_001333829.1:p.Lys753=
NM_001346941.1:c.1617A>G (EGFR) NP_001333870.1:p.Lys539=
NM_005228.4:c.2418A>G (EGFR) NP_005219.2:p.Lys806=
NM_005228.5:c.2418A>G (EGFR) MANE Select NP_005219.2:p.Lys806=
NM_001346897.2:c.2283A>G (EGFR) NP_001333826.1:p.Lys761=
NM_001346898.2:c.2418A>G (EGFR) NP_001333827.1:p.Lys806=
NM_001346900.2:c.2259A>G (EGFR) NP_001333829.1:p.Lys753=
NM_001346941.2:c.1617A>G (EGFR) NP_001333870.1:p.Lys539=
NM_001346899.2:c.2283A>G (EGFR) NP_001333828.1:p.Lys761=