Canonical Allele Identifier: CA1708918274
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 1644732
ClinVar RCV Id: RCV002140766

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174713C>G , CM000669.2:g.55174713C>G GRCh38
NC_000007.13:g.55242406C>G , CM000669.1:g.55242406C>G GRCh37
NC_000007.12:g.55209900C>G NCBI36
NG_007726.3:g.160682C>G , LRG_304:g.160682C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2185-9C>G MANE Select ENSP00000275493.2:n.2185-9C>G
ENST00000275493.6:c.2185-9C>G ENSP00000275493.2:n.2185-9C>G
ENST00000442591.5:c.*28+1785C>G ENSP00000410031.1:n.*28+1785C>G
ENST00000454757.6:c.2050-9C>G ENSP00000395243.3:n.2050-9C>G
ENST00000455089.5:c.2050-9C>G ENSP00000415559.1:n.2050-9C>G
NM_005228.3:c.2185-9C>G , LRG_304t1:c.2185-9C>G NP_005219.2:n.2185-9C>G
NM_001346897.1:c.2050-9C>G NP_001333826.1:n.2050-9C>G
NM_001346898.1:c.2185-9C>G NP_001333827.1:n.2185-9C>G
NM_001346899.1:c.2050-9C>G NP_001333828.1:n.2050-9C>G
NM_001346900.1:c.2026-9C>G NP_001333829.1:n.2026-9C>G
NM_001346941.1:c.1384-9C>G NP_001333870.1:n.1384-9C>G
NM_005228.4:c.2185-9C>G NP_005219.2:n.2185-9C>G
NM_005228.5:c.2185-9C>G MANE Select NP_005219.2:n.2185-9C>G
NM_001346897.2:c.2050-9C>G NP_001333826.1:n.2050-9C>G
NM_001346898.2:c.2185-9C>G NP_001333827.1:n.2185-9C>G
NM_001346900.2:c.2026-9C>G NP_001333829.1:n.2026-9C>G
NM_001346941.2:c.1384-9C>G NP_001333870.1:n.1384-9C>G
NM_001346899.2:c.2050-9C>G NP_001333828.1:n.2050-9C>G