Canonical Allele Identifier: CA2682856306

Gene: EGFR

Linked Data

• gnomAD v4: 7-55201114-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201114C>T , CM000669.2:g.55201114C>T	GRCh38
NC_000007.13:g.55268807C>T , CM000669.1:g.55268807C>T	GRCh37
NC_000007.12:g.55236301C>T	NCBI36
NG_007726.3:g.187083C>T , LRG_304:g.187083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2788-74C>T	ENSP00000413354.2:n.2788-74C>T
ENST00000700145.1:c.900-4233C>T
ENST00000700146.1:n.691-74C>T
ENST00000700147.1:n.542C>T
ENST00000275493.7:c.2947-74C>T MANE Select	ENSP00000275493.2:n.2947-74C>T
ENST00000275493.6:c.2947-74C>T	ENSP00000275493.2:n.2947-74C>T
ENST00000442591.5:c.*28+28186C>T	ENSP00000410031.1:n.*28+28186C>T
ENST00000454757.6:c.2812-74C>T	ENSP00000395243.3:n.2812-74C>T
ENST00000455089.5:c.2812-74C>T	ENSP00000415559.1:n.2812-74C>T
NM_005228.3:c.2947-74C>T , LRG_304t1:c.2947-74C>T	NP_005219.2:n.2947-74C>T
NM_001346897.1:c.2812-74C>T	NP_001333826.1:n.2812-74C>T
NM_001346898.1:c.2947-74C>T	NP_001333827.1:n.2947-74C>T
NM_001346899.1:c.2812-74C>T	NP_001333828.1:n.2812-74C>T
NM_001346900.1:c.2788-74C>T	NP_001333829.1:n.2788-74C>T
NM_001346941.1:c.2146-74C>T	NP_001333870.1:n.2146-74C>T
NM_005228.4:c.2947-74C>T	NP_005219.2:n.2947-74C>T
NM_005228.5:c.2947-74C>T MANE Select	NP_005219.2:n.2947-74C>T
NM_001346897.2:c.2812-74C>T	NP_001333826.1:n.2812-74C>T
NM_001346898.2:c.2947-74C>T	NP_001333827.1:n.2947-74C>T
NM_001346900.2:c.2788-74C>T	NP_001333829.1:n.2788-74C>T
NM_001346941.2:c.2146-74C>T	NP_001333870.1:n.2146-74C>T
NM_001346899.2:c.2812-74C>T	NP_001333828.1:n.2812-74C>T