Canonical Allele Identifier: CA2682856225

Gene: EGFR

Linked Data

• gnomAD v4: 7-55200902-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55200902C>A , CM000669.2:g.55200902C>A	GRCh38
NC_000007.13:g.55268595C>A , CM000669.1:g.55268595C>A	GRCh37
NC_000007.12:g.55236089C>A	NCBI36
NG_007726.3:g.186871C>A , LRG_304:g.186871C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2788-286C>A	ENSP00000413354.2:n.2788-286C>A
ENST00000700145.1:c.900-4445C>A
ENST00000700146.1:n.691-286C>A
ENST00000700147.1:n.330C>A
ENST00000275493.7:c.2947-286C>A MANE Select	ENSP00000275493.2:n.2947-286C>A
ENST00000275493.6:c.2947-286C>A	ENSP00000275493.2:n.2947-286C>A
ENST00000442591.5:c.*28+27974C>A	ENSP00000410031.1:n.*28+27974C>A
ENST00000454757.6:c.2812-286C>A	ENSP00000395243.3:n.2812-286C>A
ENST00000455089.5:c.2812-286C>A	ENSP00000415559.1:n.2812-286C>A
NM_005228.3:c.2947-286C>A , LRG_304t1:c.2947-286C>A	NP_005219.2:n.2947-286C>A
NM_001346897.1:c.2812-286C>A	NP_001333826.1:n.2812-286C>A
NM_001346898.1:c.2947-286C>A	NP_001333827.1:n.2947-286C>A
NM_001346899.1:c.2812-286C>A	NP_001333828.1:n.2812-286C>A
NM_001346900.1:c.2788-286C>A	NP_001333829.1:n.2788-286C>A
NM_001346941.1:c.2146-286C>A	NP_001333870.1:n.2146-286C>A
NM_005228.4:c.2947-286C>A	NP_005219.2:n.2947-286C>A
NM_005228.5:c.2947-286C>A MANE Select	NP_005219.2:n.2947-286C>A
NM_001346897.2:c.2812-286C>A	NP_001333826.1:n.2812-286C>A
NM_001346898.2:c.2947-286C>A	NP_001333827.1:n.2947-286C>A
NM_001346900.2:c.2788-286C>A	NP_001333829.1:n.2788-286C>A
NM_001346941.2:c.2146-286C>A	NP_001333870.1:n.2146-286C>A
NM_001346899.2:c.2812-286C>A	NP_001333828.1:n.2812-286C>A