Canonical Allele Identifier: CA1101539140

Gene: EGFR

Linked Data

• dbSNP Id: rs1787826951
• gnomAD v3: 7-55201108-A-G
• gnomAD v4: 7-55201108-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201108A>G , CM000669.2:g.55201108A>G	GRCh38
NC_000007.13:g.55268801A>G , CM000669.1:g.55268801A>G	GRCh37
NC_000007.12:g.55236295A>G	NCBI36
NG_007726.3:g.187077A>G , LRG_304:g.187077A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2788-80A>G	ENSP00000413354.2:n.2788-80A>G
ENST00000700145.1:c.900-4239A>G
ENST00000700146.1:n.691-80A>G
ENST00000700147.1:n.536A>G
ENST00000275493.7:c.2947-80A>G MANE Select	ENSP00000275493.2:n.2947-80A>G
ENST00000275493.6:c.2947-80A>G	ENSP00000275493.2:n.2947-80A>G
ENST00000442591.5:c.*28+28180A>G	ENSP00000410031.1:n.*28+28180A>G
ENST00000454757.6:c.2812-80A>G	ENSP00000395243.3:n.2812-80A>G
ENST00000455089.5:c.2812-80A>G	ENSP00000415559.1:n.2812-80A>G
NM_005228.3:c.2947-80A>G , LRG_304t1:c.2947-80A>G	NP_005219.2:n.2947-80A>G
NM_001346897.1:c.2812-80A>G	NP_001333826.1:n.2812-80A>G
NM_001346898.1:c.2947-80A>G	NP_001333827.1:n.2947-80A>G
NM_001346899.1:c.2812-80A>G	NP_001333828.1:n.2812-80A>G
NM_001346900.1:c.2788-80A>G	NP_001333829.1:n.2788-80A>G
NM_001346941.1:c.2146-80A>G	NP_001333870.1:n.2146-80A>G
NM_005228.4:c.2947-80A>G	NP_005219.2:n.2947-80A>G
NM_005228.5:c.2947-80A>G MANE Select	NP_005219.2:n.2947-80A>G
NM_001346897.2:c.2812-80A>G	NP_001333826.1:n.2812-80A>G
NM_001346898.2:c.2947-80A>G	NP_001333827.1:n.2947-80A>G
NM_001346900.2:c.2788-80A>G	NP_001333829.1:n.2788-80A>G
NM_001346941.2:c.2146-80A>G	NP_001333870.1:n.2146-80A>G
NM_001346899.2:c.2812-80A>G	NP_001333828.1:n.2812-80A>G