Canonical Allele Identifier: CA839809387
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1239553529
gnomAD v3: 7-55168343-T-C
gnomAD v4: 7-55168343-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55168343T>C , CM000669.2:g.55168343T>C GRCh38
NC_000007.13:g.55236036T>C , CM000669.1:g.55236036T>C GRCh37
NC_000007.12:g.55203530T>C NCBI36
NG_007726.3:g.154312T>C , LRG_304:g.154312T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.1722-2832T>C ENSP00000413354.2:n.1722-2832T>C
ENST00000700145.1:c.230-2832T>C
ENST00000344576.7:c.1881-1964T>C ENSP00000345973.2:n.1881-1964T>C
ENST00000275493.7:c.1881-2832T>C MANE Select ENSP00000275493.2:n.1881-2832T>C
ENST00000275493.6:c.1881-2832T>C ENSP00000275493.2:n.1881-2832T>C
ENST00000342916.7:c.1881-180T>C ENSP00000342376.3:n.1881-180T>C
ENST00000344576.6:c.1881-1964T>C ENSP00000345973.2:n.1881-1964T>C
ENST00000442591.5:c.1881-2832T>C ENSP00000410031.1:n.1881-2832T>C
ENST00000454757.6:c.1746-2832T>C ENSP00000395243.3:n.1746-2832T>C
ENST00000455089.5:c.1746-2832T>C ENSP00000415559.1:n.1746-2832T>C
NM_005228.3:c.1881-2832T>C , LRG_304t1:c.1881-2832T>C NP_005219.2:n.1881-2832T>C
NM_201282.1:c.1881-180T>C NP_958439.1:n.1881-180T>C
NM_201284.1:c.1881-1964T>C NP_958441.1:n.1881-1964T>C
NM_001346897.1:c.1746-2832T>C NP_001333826.1:n.1746-2832T>C
NM_001346898.1:c.1881-2832T>C NP_001333827.1:n.1881-2832T>C
NM_001346899.1:c.1746-2832T>C NP_001333828.1:n.1746-2832T>C
NM_001346900.1:c.1722-2832T>C NP_001333829.1:n.1722-2832T>C
NM_001346941.1:c.1080-2832T>C NP_001333870.1:n.1080-2832T>C
NM_005228.4:c.1881-2832T>C NP_005219.2:n.1881-2832T>C
NM_005228.5:c.1881-2832T>C MANE Select NP_005219.2:n.1881-2832T>C
NM_001346897.2:c.1746-2832T>C NP_001333826.1:n.1746-2832T>C
NM_001346898.2:c.1881-2832T>C NP_001333827.1:n.1881-2832T>C
NM_001346900.2:c.1722-2832T>C NP_001333829.1:n.1722-2832T>C
NM_001346941.2:c.1080-2832T>C NP_001333870.1:n.1080-2832T>C
NM_201282.2:c.1881-180T>C NP_958439.1:n.1881-180T>C
NM_201284.2:c.1881-1964T>C NP_958441.1:n.1881-1964T>C
NM_001346899.2:c.1746-2832T>C NP_001333828.1:n.1746-2832T>C