Canonical Allele Identifier: CA367580115
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs150036236

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191741G>T , CM000669.2:g.55191741G>T GRCh38
NC_000007.13:g.55259434G>T , CM000669.1:g.55259434G>T GRCh37
NC_000007.12:g.55226928G>T NCBI36
NG_007726.3:g.177710G>T , LRG_304:g.177710G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2333G>T ENSP00000413354.2:p.Arg778Leu
ENST00000700145.1:c.841G>T
ENST00000275493.7:c.2492G>T MANE Select ENSP00000275493.2:p.Arg831Leu
ENST00000275493.6:c.2492G>T ENSP00000275493.2:p.Arg831Leu
ENST00000442591.5:c.*28+18813G>T ENSP00000410031.1:n.*28+18813G>T
ENST00000454757.6:c.2357G>T ENSP00000395243.3:p.Arg786Leu
ENST00000455089.5:c.2357G>T ENSP00000415559.1:p.Arg786Leu
NM_005228.3:c.2492G>T , LRG_304t1:c.2492G>T NP_005219.2:p.Arg831Leu
NM_001346897.1:c.2357G>T NP_001333826.1:p.Arg786Leu
NM_001346898.1:c.2492G>T NP_001333827.1:p.Arg831Leu
NM_001346899.1:c.2357G>T NP_001333828.1:p.Arg786Leu
NM_001346900.1:c.2333G>T NP_001333829.1:p.Arg778Leu
NM_001346941.1:c.1691G>T NP_001333870.1:p.Arg564Leu
NM_005228.4:c.2492G>T NP_005219.2:p.Arg831Leu
NM_005228.5:c.2492G>T MANE Select NP_005219.2:p.Arg831Leu
NM_001346897.2:c.2357G>T NP_001333826.1:p.Arg786Leu
NM_001346898.2:c.2492G>T NP_001333827.1:p.Arg831Leu
NM_001346900.2:c.2333G>T NP_001333829.1:p.Arg778Leu
NM_001346941.2:c.1691G>T NP_001333870.1:p.Arg564Leu
NM_001346899.2:c.2357G>T NP_001333828.1:p.Arg786Leu