Canonical Allele Identifier: CA2682856240

Gene: EGFR

Linked Data

• dbSNP Id: rs2128970992
• gnomAD v4: 7-55200920-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55200920G>A , CM000669.2:g.55200920G>A	GRCh38
NC_000007.13:g.55268613G>A , CM000669.1:g.55268613G>A	GRCh37
NC_000007.12:g.55236107G>A	NCBI36
NG_007726.3:g.186889G>A , LRG_304:g.186889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2788-268G>A	ENSP00000413354.2:n.2788-268G>A
ENST00000700145.1:c.900-4427G>A
ENST00000700146.1:n.691-268G>A
ENST00000700147.1:n.348G>A
ENST00000275493.7:c.2947-268G>A MANE Select	ENSP00000275493.2:n.2947-268G>A
ENST00000275493.6:c.2947-268G>A	ENSP00000275493.2:n.2947-268G>A
ENST00000442591.5:c.*28+27992G>A	ENSP00000410031.1:n.*28+27992G>A
ENST00000454757.6:c.2812-268G>A	ENSP00000395243.3:n.2812-268G>A
ENST00000455089.5:c.2812-268G>A	ENSP00000415559.1:n.2812-268G>A
NM_005228.3:c.2947-268G>A , LRG_304t1:c.2947-268G>A	NP_005219.2:n.2947-268G>A
NM_001346897.1:c.2812-268G>A	NP_001333826.1:n.2812-268G>A
NM_001346898.1:c.2947-268G>A	NP_001333827.1:n.2947-268G>A
NM_001346899.1:c.2812-268G>A	NP_001333828.1:n.2812-268G>A
NM_001346900.1:c.2788-268G>A	NP_001333829.1:n.2788-268G>A
NM_001346941.1:c.2146-268G>A	NP_001333870.1:n.2146-268G>A
NM_005228.4:c.2947-268G>A	NP_005219.2:n.2947-268G>A
NM_005228.5:c.2947-268G>A MANE Select	NP_005219.2:n.2947-268G>A
NM_001346897.2:c.2812-268G>A	NP_001333826.1:n.2812-268G>A
NM_001346898.2:c.2947-268G>A	NP_001333827.1:n.2947-268G>A
NM_001346900.2:c.2788-268G>A	NP_001333829.1:n.2788-268G>A
NM_001346941.2:c.2146-268G>A	NP_001333870.1:n.2146-268G>A
NM_001346899.2:c.2812-268G>A	NP_001333828.1:n.2812-268G>A