Canonical Allele Identifier: CA2682855878
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128969749
gnomAD v4: 7-55200302-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55200302C>A , CM000669.2:g.55200302C>A GRCh38
NC_000007.13:g.55267995C>A , CM000669.1:g.55267995C>A GRCh37
NC_000007.12:g.55235489C>A NCBI36
NG_007726.3:g.186271C>A , LRG_304:g.186271C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2690-14C>A ENSP00000413354.2:n.2690-14C>A
ENST00000700145.1:c.900-5045C>A
ENST00000700146.1:n.593-14C>A
ENST00000275493.7:c.2849-14C>A MANE Select ENSP00000275493.2:n.2849-14C>A
ENST00000275493.6:c.2849-14C>A ENSP00000275493.2:n.2849-14C>A
ENST00000442591.5:c.*28+27374C>A ENSP00000410031.1:n.*28+27374C>A
ENST00000454757.6:c.2714-14C>A ENSP00000395243.3:n.2714-14C>A
ENST00000455089.5:c.2714-14C>A ENSP00000415559.1:n.2714-14C>A
ENST00000485503.1:n.179-14C>A
NM_005228.3:c.2849-14C>A , LRG_304t1:c.2849-14C>A NP_005219.2:n.2849-14C>A
NM_001346897.1:c.2714-14C>A NP_001333826.1:n.2714-14C>A
NM_001346898.1:c.2849-14C>A NP_001333827.1:n.2849-14C>A
NM_001346899.1:c.2714-14C>A NP_001333828.1:n.2714-14C>A
NM_001346900.1:c.2690-14C>A NP_001333829.1:n.2690-14C>A
NM_001346941.1:c.2048-14C>A NP_001333870.1:n.2048-14C>A
NM_005228.4:c.2849-14C>A NP_005219.2:n.2849-14C>A
NM_005228.5:c.2849-14C>A MANE Select NP_005219.2:n.2849-14C>A
NM_001346897.2:c.2714-14C>A NP_001333826.1:n.2714-14C>A
NM_001346898.2:c.2849-14C>A NP_001333827.1:n.2849-14C>A
NM_001346900.2:c.2690-14C>A NP_001333829.1:n.2690-14C>A
NM_001346941.2:c.2048-14C>A NP_001333870.1:n.2048-14C>A
NM_001346899.2:c.2714-14C>A NP_001333828.1:n.2714-14C>A