Canonical Allele Identifier: CA2682853624
Gene: EGFR HGNC NCBI

Linked Data

gnomAD v4: 7-55168392-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55168392G>T , CM000669.2:g.55168392G>T GRCh38
NC_000007.13:g.55236085G>T , CM000669.1:g.55236085G>T GRCh37
NC_000007.12:g.55203579G>T NCBI36
NG_007726.3:g.154361G>T , LRG_304:g.154361G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.1722-2783G>T ENSP00000413354.2:n.1722-2783G>T
ENST00000700145.1:c.230-2783G>T
ENST00000344576.7:c.1881-1915G>T ENSP00000345973.2:n.1881-1915G>T
ENST00000275493.7:c.1881-2783G>T MANE Select ENSP00000275493.2:n.1881-2783G>T
ENST00000275493.6:c.1881-2783G>T ENSP00000275493.2:n.1881-2783G>T
ENST00000342916.7:c.1881-131G>T ENSP00000342376.3:n.1881-131G>T
ENST00000344576.6:c.1881-1915G>T ENSP00000345973.2:n.1881-1915G>T
ENST00000442591.5:c.1881-2783G>T ENSP00000410031.1:n.1881-2783G>T
ENST00000454757.6:c.1746-2783G>T ENSP00000395243.3:n.1746-2783G>T
ENST00000455089.5:c.1746-2783G>T ENSP00000415559.1:n.1746-2783G>T
NM_005228.3:c.1881-2783G>T , LRG_304t1:c.1881-2783G>T NP_005219.2:n.1881-2783G>T
NM_201282.1:c.1881-131G>T NP_958439.1:n.1881-131G>T
NM_201284.1:c.1881-1915G>T NP_958441.1:n.1881-1915G>T
NM_001346897.1:c.1746-2783G>T NP_001333826.1:n.1746-2783G>T
NM_001346898.1:c.1881-2783G>T NP_001333827.1:n.1881-2783G>T
NM_001346899.1:c.1746-2783G>T NP_001333828.1:n.1746-2783G>T
NM_001346900.1:c.1722-2783G>T NP_001333829.1:n.1722-2783G>T
NM_001346941.1:c.1080-2783G>T NP_001333870.1:n.1080-2783G>T
NM_005228.4:c.1881-2783G>T NP_005219.2:n.1881-2783G>T
NM_005228.5:c.1881-2783G>T MANE Select NP_005219.2:n.1881-2783G>T
NM_001346897.2:c.1746-2783G>T NP_001333826.1:n.1746-2783G>T
NM_001346898.2:c.1881-2783G>T NP_001333827.1:n.1881-2783G>T
NM_001346900.2:c.1722-2783G>T NP_001333829.1:n.1722-2783G>T
NM_001346941.2:c.1080-2783G>T NP_001333870.1:n.1080-2783G>T
NM_201282.2:c.1881-131G>T NP_958439.1:n.1881-131G>T
NM_201284.2:c.1881-1915G>T NP_958441.1:n.1881-1915G>T
NM_001346899.2:c.1746-2783G>T NP_001333828.1:n.1746-2783G>T