Canonical Allele Identifier: CA2714512650
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs760627547

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55200300C>T , CM000669.2:g.55200300C>T GRCh38
NC_000007.13:g.55267993C>T , CM000669.1:g.55267993C>T GRCh37
NC_000007.12:g.55235487C>T NCBI36
NG_007726.3:g.186269C>T , LRG_304:g.186269C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2690-16C>T ENSP00000413354.2:n.2690-16C>T
ENST00000700145.1:c.900-5047C>T
ENST00000700146.1:n.593-16C>T
ENST00000275493.7:c.2849-16C>T MANE Select ENSP00000275493.2:n.2849-16C>T
ENST00000275493.6:c.2849-16C>T ENSP00000275493.2:n.2849-16C>T
ENST00000442591.5:c.*28+27372C>T ENSP00000410031.1:n.*28+27372C>T
ENST00000454757.6:c.2714-16C>T ENSP00000395243.3:n.2714-16C>T
ENST00000455089.5:c.2714-16C>T ENSP00000415559.1:n.2714-16C>T
ENST00000485503.1:n.179-16C>T
NM_005228.3:c.2849-16C>T , LRG_304t1:c.2849-16C>T NP_005219.2:n.2849-16C>T
NM_001346897.1:c.2714-16C>T NP_001333826.1:n.2714-16C>T
NM_001346898.1:c.2849-16C>T NP_001333827.1:n.2849-16C>T
NM_001346899.1:c.2714-16C>T NP_001333828.1:n.2714-16C>T
NM_001346900.1:c.2690-16C>T NP_001333829.1:n.2690-16C>T
NM_001346941.1:c.2048-16C>T NP_001333870.1:n.2048-16C>T
NM_005228.4:c.2849-16C>T NP_005219.2:n.2849-16C>T
NM_005228.5:c.2849-16C>T MANE Select NP_005219.2:n.2849-16C>T
NM_001346897.2:c.2714-16C>T NP_001333826.1:n.2714-16C>T
NM_001346898.2:c.2849-16C>T NP_001333827.1:n.2849-16C>T
NM_001346900.2:c.2690-16C>T NP_001333829.1:n.2690-16C>T
NM_001346941.2:c.2048-16C>T NP_001333870.1:n.2048-16C>T
NM_001346899.2:c.2714-16C>T NP_001333828.1:n.2714-16C>T